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1.
J Control Release ; 375: 537-551, 2024 Sep 21.
Artículo en Inglés | MEDLINE | ID: mdl-39299488

RESUMEN

Inflammatory diseases of the skin have a considerable high prevalence worldwide and negatively impact the patients' quality of life. First-line standard therapies for these conditions inherently entail important side effects when used long-term, particularly complicating the management of chronic cases. Therefore, there is a need to develop novel therapeutic strategies to offer reliable alternative treatments. Abnormally high reactive oxygen species (ROS) levels are characteristic of this kind of illnesses, and therefore a reasonable therapeutic goal. Cyanocobalamin, also known as Vitamin B12, possesses notable antioxidant and ROS-scavenging properties which could make it a possible therapeutic alternative. However, its considerable molecular weight restricts passive diffusion through the skin and forces the use of an advanced transdermal delivery system. Here, we present several prototypes of Cyanocobalamin-loaded Dissolving Microarray Patches (B12@DMAPs) with adequate mechanical properties to effectively penetrate the stratum corneum barrier, allowing drug deposition into the skin structure. Ex vivo penetration and permeability studies noted an effective drug presence within the dermal skin layers; in vitro compatibility studies in representative cell skin cell lines such as L929 fibroblasts and HaCaT keratinocytes ensured their safe use. The in vivo efficacy of the selected prototype was tested in a delayed-type hypersensitivity murine model that mimics an inflammatory skin process. Several findings such as a reduction of MPO-related photon emission in a bioluminescence study, protection against histological damage, and decrease of inflammatory cytokines levels point out the effectivity of B12@DMAPs to downregulate the skin inflammatory environment. Overall, B12@DMAPs offer a cost-effective translational alternative for improving patients' skin healthcare.

2.
Transplant Cell Ther ; 30(10): 1003.e1-1003.e9, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39097096

RESUMEN

High-dose therapy followed by autologous hematopoietic cell transplant (AHCT) remains a viable consolidation strategy for a subset of patients with relapsed or refractory (R/R) lymphomas. BEAM (carmustine, etoposide, cytarabine, and melphalan) is widely recognized as the predominant conditioning regimen due to its satisfactory efficacy and tolerability. Nevertheless, shortages of carmustine and melphalan have compelled clinicians to explore alternative conditioning regimens. The aim of this study was to compare the toxicity and transplant outcomes following BEAM, CBV (carmustine, etoposide, cyclophosphamide), BuMel (busulfan, melphalan), and BendaEAM (bendamustine, etoposide, cytarabine, melphalan). We retrospectively analyzed data from 213 patients (CBV 65, BuMel 42, BEAM 68, BendaEAM 38) with R/R lymphomas undergoing AHCT between 2014 and 2020. Multivariate models were employed to evaluate toxicity and transplant outcomes based on conditioning type. Among grade III to IV toxicities, oral mucositis was more frequently observed with BuMel (45%) and BendaEAM (24%) compared to BEAM (15%) and CVB (6%, P ≤ .001). Diarrhea was more common with BendaEAM (42%) and less frequent with BuMel (7%, P = .01). Acute kidney injury was only found after BendaEAM (11%). Febrile neutropenia and infectious complications were more frequent following BendaEAM. Frequencies of other treatment-related toxicities did not significantly differ according to conditioning type. BendaEAM (odds ratio [OR] 3.07, P = .014) and BuMel (OR 4.27, P = .002) were independently associated with higher grade III to IV toxicity up to D+100. However, there were no significant differences in relapse/progression, nonrelapse mortality, progression-free survival, or overall survival among the four regimens. BuMel and BendaEAM were associated with a higher rate of grade III to IV toxicity. Carmustine-based regimens appeared to be less toxic and safer; however, there were no significant differences in transplant outcomes. The utilization of alternative preparative regimens due to drug shortages may potentially lead to increased toxicity after AHCT for lymphoma.


Asunto(s)
Carmustina , Citarabina , Trasplante de Células Madre Hematopoyéticas , Linfoma , Melfalán , Acondicionamiento Pretrasplante , Trasplante Autólogo , Humanos , Acondicionamiento Pretrasplante/métodos , Masculino , Femenino , Persona de Mediana Edad , Linfoma/tratamiento farmacológico , Linfoma/terapia , Adulto , Carmustina/uso terapéutico , Estudios Retrospectivos , Citarabina/uso terapéutico , Melfalán/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Anciano , Etopósido/uso terapéutico , Busulfano/uso terapéutico , Resultado del Tratamiento , Ciclofosfamida/uso terapéutico
3.
Environ Monit Assess ; 196(9): 863, 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39212815

RESUMEN

Organic composts such as "bokashi", obtained from the fermentation of bran mixtures and inoculated with microorganisms, improve soil characteristics. In Brazil, the most widely used formulation for the production of this compost is obtained from a mixture of wheat and castor bean bran, but both have a high monetary cost. Replacing these components with regionally available sources represents the possibility of reducing costs and making more sustainable use of this waste. The aim of this study was to analyze the chemical characteristics and determine the availability of nitrogen for the plants. The study was divided into two stages, consisting of an incubation test in the laboratory and a bioassay in the greenhouse using forage sorghum as an indicator species. In the laboratory trial, the treatments consisted of two raw material sources with a low C/N ratio (castor bean bran-CAB and cottonseed bran-COB), corresponding to 40% of the mixture; three sources with a high C/N ratio (wheat bran-WHB or rice bran-RIB), gradually replaced by passion fruit peel bran-PFPB), corresponding to 60% of the mixture. The materials were mixed, moistened, inoculated with microorganisms (Embiotic®) and kept in sealed containers with a capacity of 620 cm3 for 21 days. In the greenhouse, in addition to the aforementioned treatments, seven controls were included: no addition of organic and synthetic N sources; ammonium nitrate; CAB; COB; WHB; RIB and PFPB. In the second stage, dry mass production and N content in sorghum plant tissues were determined, and the rates of N availability were estimated. It was found that the pH of the standard compost was 4.75, and in the other formulations it ranged from 4.62 to 5.3, the highest values being observed when WHB was fully replaced by RIB There was a significant difference in the EC values, but all were well below the value considered adequate. Replacing CAB with COB and WHB with RIB and PFPB resulted in a reduction in N content and an increase in the C:N ratio. Replacing WHB with PFPB led to an increase in K content and a reduction in P and Mg content. In the bioassay, the highest biomass production was in the treatments with the fermented composts, and the highest biological recovery of N was obtained in the ammonium nitrate treatment, followed by the CAB, COB and WHB treatments.


Asunto(s)
Agricultura , Compostaje , Residuos Industriales , Brasil , Agricultura/métodos , Fermentación , Suelo/química , Nitrógeno/análisis , Sorghum
4.
Pathogens ; 13(8)2024 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-39204231

RESUMEN

BACKGROUND: Leishmaniasis is a significant global public health issue that is caused by parasites from Leishmania genus. With limited treatment options and rising drug resistance, there is a pressing need for new therapeutic approaches. Molecular chaperones, particularly Hsp90, play a crucial role in parasite biology and are emerging as promising targets for drug development. OBJECTIVE: This study evaluates the efficacy of 17-DMAG in treating BALB/c mice from cutaneous leishmaniasis through in vitro and in vivo approaches. MATERIALS AND METHODS: We assessed 17-DMAG's cytotoxic effect on bone marrow-derived macrophages (BMMΦ) and its effects against L. braziliensis promastigotes and intracellular amastigotes. Additionally, we tested the compound's efficacy in BALB/c mice infected with L. braziliensis via intraperitoneal administration to evaluate the reduction in lesion size and the decrease in parasite load in the ears and lymph nodes of infected animals. RESULTS: 17-DMAG showed selective toxicity [selective index = 432) towards Leishmania amastigotes, causing minimal damage to host cells. The treatment significantly reduced lesion sizes in mice and resulted in parasite clearance from ears and lymph nodes. It also diminished inflammatory responses and reduced the release of pro-inflammatory cytokines (IL-6, IFN-γ, TNF) and the regulatory cytokine IL-10, underscoring its dual leishmanicidal and anti-inflammatory properties. CONCLUSIONS: Our findings confirm the potential of 17-DMAG as a viable treatment for cutaneous leishmaniasis and support further research into its mechanisms and potential applications against other infectious diseases.

5.
Autoimmun Rev ; 23(6): 103582, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39074630

RESUMEN

BACKGROUND: The early detection and management of (progressive) interstitial lung disease in patients with connective tissue diseases requires the attention and skills of a multidisciplinary team. However, there are currently no well-established standards to guide the daily practice of physicians treating this heterogenous group of diseases. RESEARCH QUESTION: This paper aimed to identify gaps in scientific knowledge along the journey of patients with connective tissue disease-related interstitial lung disease and to provide tools for earlier identification of interstitial lung disease and progressive disease. STUDY DESIGN AND METHODS: The opinions of an international expert panel, which consisted of pulmonologists and rheumatologists were collected and interpreted in the light of peer-reviewed data. RESULTS: Interstitial lung disease is a common complication of connective tissue diseases, but prevalence estimates vary by subtype. Screening and monitoring by means of clinical examination, chest radiography, pulmonary function testing, and disease-specific biomarkers provide insight into the disease activity of patients presenting with connective tissue diseases in a routine setting. Multiple phenotypic and genotypic characteristics have been identified as predictors of the development and progression of interstitial lung disease. However, these risk factors differ between subtypes. To ensure earlier diagnosis of rapidly progressive phenotypes, a risk-based method is necessary for determining the need for HRCT and additional testing. INTERPRETATION: To reduce the underdiagnosis of CTD-ILDs in clinical practice, a standardized and systematic multidisciplinary risk-based approach is suggested. Collaboration across disciplines is essential for the management of CTD-ILD.


Asunto(s)
Enfermedades del Tejido Conjuntivo , Diagnóstico Precoz , Enfermedades Pulmonares Intersticiales , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/etiología , Enfermedades Pulmonares Intersticiales/complicaciones , Humanos , Enfermedades del Tejido Conjuntivo/diagnóstico , Enfermedades del Tejido Conjuntivo/complicaciones , Progresión de la Enfermedad , Guías de Práctica Clínica como Asunto , Biomarcadores
6.
ARP Rheumatol ; 3(2): 84-94, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38956991

RESUMEN

OBJECTIVE: To develop evidence-based recommendations for the non-pharmacological and pharmacological management of Raynaud's phenomenon (RP) and digital ulcers (DUs) in patients with systemic sclerosis and other immune-mediated connective tissue diseases (CTDs). METHODS: A task force comprising 21 rheumatologists, two surgeons (vascular and plastic), two nurses, and one patient representative was established. Following a systematic literature review performed to inform the recommendations, statements were formulated and discussed during two meetings (one online and one in-person). Levels of evidence, grades of recommendation (GoR), and level of agreement (LoA) were determined. RESULTS: Five overarching principles and 13 recommendations were developed. GoR ranged from A to D. The mean ± standard difference (SD) LoA with the overarching principles and recommendations ranged from 7.8±2.1 to 9.8±0.4. Briefly, the management of RP and DUs in patients with CTDs should be coordinated by a multidisciplinary team and based on shared decisions with patients. Nifedipine should be used as first-line therapy for RP and/or DUs. Sildenafil, tadalafil, and/or iloprost IV are second-line options for severe and/or refractory patients with RP and/or DUs. Sildenafil, tadalafil and/or Iloprost IV, should be prescribed for healing and prevention (also including bosentan) of DUs. In patients with RP and/or DUs, non-pharmacological interventions might be considered as add-ons, but there is limited quality and quantity of scientific evidence supporting their use. CONCLUSIONS: These recommendations will inform rheumatologists, specialist nurses, other healthcare professionals, and patients about a comprehensive and personalized management of RP and DUs. A research agenda was developed to address unmet needs, particularly for non-pharmacologic interventions.


Asunto(s)
Enfermedades del Tejido Conjuntivo , Dedos , Enfermedad de Raynaud , Esclerodermia Sistémica , Úlcera Cutánea , Humanos , Enfermedades del Tejido Conjuntivo/complicaciones , Enfermedades del Tejido Conjuntivo/terapia , Dedos/irrigación sanguínea , Dedos/patología , Portugal , Enfermedad de Raynaud/terapia , Enfermedad de Raynaud/etiología , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/terapia , Úlcera Cutánea/terapia , Úlcera Cutánea/etiología
7.
Drug Discov Today ; 29(9): 104093, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38992420

RESUMEN

As the global population ages, the need to prolong lifespan and healthspan becomes increasingly imperative. Understanding the molecular determinants underlying cognitive resilience, together with changes during aging and the (epi)genetic factors that predispose an individual to decreased cognitive resilience, open avenues for researching novel therapies. This review provides a critical and timely appraisal of the molecular mechanisms underlying cognitive resilience, framed within a critical analysis of emerging therapeutic strategies to mitigate age-related cognitive decline. Significant insights from both animals and human subjects are discussed herein, directed either toward active pharmaceutical ingredients (drug repositioning or macromolecules), or, alternatively, advanced cellular therapies.


Asunto(s)
Envejecimiento , Humanos , Animales , Envejecimiento/efectos de los fármacos , Cognición/efectos de los fármacos , Disfunción Cognitiva/tratamiento farmacológico , Reposicionamiento de Medicamentos
8.
Front Oncol ; 14: 1404351, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38919524

RESUMEN

Background: The short-term complications from chimeric antigen receptor T-cell therapy (CART) are well characterized, but the long-term complications still need to be further investigated. Therefore, herein, we will review the currently available literature published on the late adverse events following CART. Methods: We reviewed published data available from pivotal trials and real-world experiences with anti-CD19 CART (CART19) for adults with lymphoma. We defined late events as occurring or persisting beyond 1 month after CART infusion. We focused our literature review on the following late-event outcomes post-CART19: cytopenia, immune reconstitution, infections, and subsequent malignancies. Results: Grade 3-4 cytopenia beyond 30 days occurs in 30%-40% of patients and beyond 90 days in 3%-22% of patients and is usually managed with growth-factor and transfusion support, along with neutropenic prophylaxis. B-cell aplasia and hypogammaglobulinemia are expected on-target off-tumor effects of CART19, 44%-53% of patients have IgG < 400 mg/dL, and approximately 27%-38% of patients receive intravenous immunoglobulin (IVIG) replacement. Infections beyond the initial month from CART19 are not frequent and rarely severe, but they are more prevalent and severe when patients receive subsequent therapies post-CART19 for their underlying disease. Late neurotoxicity and neurocognitive impairment are uncommon, and other causes should be considered. T-cell lymphoma (TCL) after CART is an extremely rare event and not necessarily related to CAR transgene. Myeloid neoplasm is not rare post-CART, but unclear causality given heavily pretreated patient population is already at risk for therapy-related myeloid neoplasm. Conclusion: CART19 is associated with clinically significant long-term effects such as prolonged cytopenia, hypogammaglobulinemia, and infections that warrant clinical surveillance, but they are mostly manageable with a low risk of non-relapse mortality. The risk of subsequent malignancies post-CART19 seems low, and the relationship with CART19 and/or prior therapies is unclear; but regardless of the possible causality, this should not impact the current benefit-risk ratio of CART19 for relapsed/refractory B-cell non-Hodgkin lymphoma (NHL).

9.
Rev Bras Enferm ; 77(1): e20230174, 2024.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-38716907

RESUMEN

OBJECTIVES: to analyze nurse Josicélia Dumêt Fernandes' life story, with emphasis on her work in the psychiatry and mental health fields. METHODS: historical, qualitative research. Semi-structured interviews and documentary research were used as data collection techniques, collected from September to October 2021. For data analysis, we opted for the content analysis method and comparison with the Foucauldian philosophical framework. RESULTS: four categories emerged: Transforming herself and mental health practices; (Re)framing professional practice; Nursing practice and power relations; and The paths and implications in the psychiatry and mental health fields. FINAL CONSIDERATIONS: the study of the biographer demonstrates a search for transformation of herself and mental health practices, with a rupture in paradigms and reframing of her practice in psychiatry and mental health.


Asunto(s)
Enfermería Psiquiátrica , Investigación Cualitativa , Enfermería Psiquiátrica/métodos , Enfermería Psiquiátrica/tendencias , Humanos , Historia del Siglo XX , Historia del Siglo XXI , Brasil
10.
Adv Drug Deliv Rev ; 210: 115341, 2024 07.
Artículo en Inglés | MEDLINE | ID: mdl-38797317

RESUMEN

Microneedles (MNs) offer minimally-invasive access to interstitial fluid (ISF) - a potent alternative to blood in terms of monitoring physiological analytes. This property is particularly advantageous for the painless detection and monitoring of drugs and biomolecules. However, the complexity of the skin environment, coupled with the inherent nature of the analytes being detected and the inherent physical properties of MNs, pose challenges when conducting physiological monitoring using this fluid. In this review, we discuss different sensing mechanisms and highlight advancements in monitoring different targets, with a particular focus on drug monitoring. We further list the current challenges facing the field and conclude by discussing aspects of MN design which serve to enhance their performance when monitoring different classes of analytes.


Asunto(s)
Microinyecciones , Agujas , Animales , Humanos , Técnicas Biosensibles/métodos , Monitoreo de Drogas/métodos , Líquido Extracelular/metabolismo , Microinyecciones/instrumentación , Microinyecciones/métodos , Piel/metabolismo
11.
Cureus ; 16(2): e53818, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38465123

RESUMEN

Primary aldosteronism, the most common curable form of secondary hypertension, is associated with greater hypertension-related organ damage and cardiovascular complications compared to primary essential hypertension. The authors present a case involving a 41-year-old Black male admitted to the emergency department with left hemiparesis and blurred vision persisting for one hour, accompanied by markedly elevated blood pressure (220/140 mmHg). The patient was asymptomatic by then, and, aside from a history of tobacco smoking and occasional cannabis use, lacked significant medical comorbidities. Further investigations revealed a right acute hemorrhagic stroke, bilateral grade 4 hypertensive retinopathy, chronic kidney disease with end-stage renal disease, hypokalemia, and an elevated aldosterone/renin ratio. An abdominal CT scan showed bilateral adrenal hyperplasia. The patient was diagnosed with primary aldosteronism with extensive hypertension-mediated organ damage. This case highlights the significant harm caused by undiagnosed primary aldosteronism-induced secondary hypertension, emphasizing the importance of timely diagnosis and intervention to prevent organ damage.

13.
Int J Biol Macromol ; 263(Pt 2): 130301, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38382776

RESUMEN

The development of a self-regulated minimally invasive system for insulin delivery can be considered as the holy grail in the field of diabetes mellitus. A delivery system capable of releasing insulin in response to blood glucose levels would significantly improve the quality of life of diabetic patients, eliminating the need for frequent finger-prick tests and providing better glycaemic control with lower risk of hypoglycaemia. In this context, the latest advances in glucose-responsive microneedle-based transdermal insulin delivery are here compiled with a thorough analysis of the delivery mechanisms and challenges lying ahead in their clinical translation. Two main groups of microneedle-based systems have been developed so far: glucose oxidase-containing and phenylboronic acid-containing systems. Both strategies in combination have also been tested and two other novel strategies are under development, namely electronic closed-loop and glucose transporter-based systems. Results from preclinical studies conducted using these different types of glucose-triggered release systems are comprehensively discussed. Altogether, this analysis from both a mechanistic and translational perspective will provide rationale and/or guidance for future trends in the research hotspot of glucose-responsive microneedle-based insulin delivery systems.


Asunto(s)
Diabetes Mellitus Tipo 1 , Insulina , Humanos , Insulina/uso terapéutico , Glucosa , Calidad de Vida , Sistemas de Liberación de Medicamentos/métodos , Administración Cutánea , Glucemia/análisis
14.
ARP Rheumatol ; 3(Apr-Jun): 128-144, 2024 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-38306796

RESUMEN

OBJECTIVE: To perform a systematic literature review (SLR) aimed at evaluating the efficacy and safety of pharmacological and non-pharmacological treatments for Raynaud's phenomenon (RP) and digital ulcers (DU) in patients with systemic sclerosis (SSc) and other connective tissue diseases (CTD), in order to inform the Portuguese recommendations for managing RP and DU in these patients. METHODS: A SLR was conducted until May 2022 to identify studies assessing the efficacy and safety of pharmacological and non-pharmacological interventions for RP and DU in SSc and other CTD. Eligible study designs included randomized controlled trials (RCTs), controlled clinical trials, and their extensions for assessing efficacy and safety of interventions. Observational studies with a comparator were included for evaluating the efficacy and safety of non-pharmacological interventions and safety of pharmacological interventions. The risk of bias of each study was assessed using standard tools. RESULTS: Out of 71 publications meeting the inclusion criteria, 59 evaluated pharmacological and 12 non-pharmacological interventions. We found moderate quality evidence supporting the efficacy of calcium channel blockers, phosphodiesterase-5 inhibitors, and intravenous prostacyclin analogues in reducing RP frequency, severity, and duration. Intravenous iloprost had a small to moderate effect size in improving DU healing. Phosphodiesterase-5 inhibitors were effective in reducing total DU count, new DU occurrence, and enhancing DU healing. Bosentan effectively prevented new DU in SSc patients. No new safety concerns were associated with these treatments. The studies on non-pharmacological interventions were, in general, of low quality, and had a small sample size. Warming measures decreased frequency and duration of RP attacks; laser therapy improved RP-related outcomes; local oxygen-ozone therapy improved RP outcomes as an add-on therapy; bone marrow mononuclear cell implantation improved DU-associated pain; periarterial sympathectomy and vascular bypass reduced DU number and finger amputation risk. CONCLUSION: The available evidence supports the efficacy and safety of pharmacological interventions, namely nifedipine, sildenafil, iloprost, and bosentan in treating RP and DU in patients with SSc and other CTD. Scarce and low-quality evidence does support the use of some non-pharmacological interventions but with only a modest effect size. This SLR underscores the limited availability of high-quality evidence for determining the optimal treatment.


Asunto(s)
Enfermedades del Tejido Conjuntivo , Enfermedad de Raynaud , Esclerodermia Sistémica , Úlcera Cutánea , Humanos , Enfermedad de Raynaud/terapia , Enfermedad de Raynaud/etiología , Enfermedad de Raynaud/tratamiento farmacológico , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/terapia , Enfermedades del Tejido Conjuntivo/complicaciones , Enfermedades del Tejido Conjuntivo/terapia , Úlcera Cutánea/terapia , Úlcera Cutánea/etiología , Úlcera Cutánea/tratamiento farmacológico , Portugal/epidemiología , Bloqueadores de los Canales de Calcio/uso terapéutico , Dedos/irrigación sanguínea , Guías de Práctica Clínica como Asunto , Iloprost/uso terapéutico , Inhibidores de Fosfodiesterasa 5/uso terapéutico , Vasodilatadores/uso terapéutico
15.
ARP Rheumatol ; 2024 Feb 13.
Artículo en Inglés | MEDLINE | ID: mdl-38368559

RESUMEN

Pulmonary hypertension (PH) is one of the most feared complications of systemic sclerosis (SSc). There are currently specific drugs approved for PH group I (pulmonary arterial hypertension - PAH), but for PH related to lung disease (group III) the use of vasodilators is still controversial and not routinely recommended in patients with non-severe PH. However, SSc-PH-interstitial lung disease (ILD) has a poorer survival compared with SSc-PAH, making the management of these patients a challenge, ideally carried out in a reference centre. Herein we report the case of a a 45-year-old female with systemic sclerosis-myositis overlap syndrome, with documented lung involvement (ILD with fibrotic nonspecific interstitial/organizing pneumonia pattern), who was diagnosed with pre-capillary PH. She started sequential combination vasodilator therapy including parenteric prostanoid, with clinical benefit and without evidence of ILD worsening.

16.
Acta Med Port ; 37(3): 187-197, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-37294265

RESUMEN

INTRODUCTION: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. METHODS: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. RESULTS: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. CONCLUSION: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families.


Asunto(s)
Síndromes Neurocutáneos , Neurofibromatosis 1 , Humanos , Niño , Portugal , Síndromes Neurocutáneos/diagnóstico , Síndromes Neurocutáneos/terapia , Calidad de Vida , Estudios Retrospectivos , Centros de Atención Terciaria , Instituciones de Atención Ambulatoria , Neurofibromatosis 1/terapia
17.
Esc. Anna Nery Rev. Enferm ; 28: e20230140, 2024. tab, graf
Artículo en Portugués | LILACS, BDENF | ID: biblio-1557750

RESUMEN

RESUMO Objetivo O presente estudo objetiva identificar as perspectivas científicas sobre as implicações da pandemia da COVID-19 na primeira infância, focando nas necessidades essenciais da criança. Método Foi realizada uma revisão integrativa da literatura, que incluiu cinco bases de dados. O processo envolveu a identificação do problema, o desenvolvimento de uma pergunta orientadora, pesquisa na literatura, análise dos dados e síntese dos resultados. Foram incluídos artigos originais que envolviam crianças com menos de seis anos, publicados entre 2020 e 2022. A análise foi conduzida tendo como referencial teórico as necessidades essenciais da criança. Resultados Foram examinados 22 artigos. Os resultados indicaram um aumento na sobrecarga e no estresse parental. As crianças apresentaram alterações comportamentais, perturbações no padrão do sono, uso mais frequente de mídias digitais e diminuição de atividades realizadas ao ar livre. Fatores protetores, relacionados ao vínculo familiar, cuidado e acolhimento da criança, foram identificados. O fechamento de creches e escolas distanciou os cuidadores dos profissionais da educação e de outros pais, mas sua reabertura trouxe maior apoio às famílias. Necessidades de relacionamentos contínuos de apoio, experiências adequadas ao desenvolvimento e comunidades solidárias foram mais evidenciadas. No entanto, foram encontrados menos aspectos relacionados à proteção física e ao estabelecimento de limites. Experiências sobre diferenças individuais não foram identificadas. Conclusão A pesquisa científica revelou vulnerabilidades substanciais e potencialidades no cuidado à saúde da criança durante a pandemia de COVID-19. Esses resultados sugerem impactos significativos no bem-estar e no desenvolvimento infantil, implicando na necessidade de ações específicas por parte da enfermagem no contexto da Atenção Primária à Saúde.


RESUMEN Objetivo Identificar el conocimiento científico acerca de las implicaciones de la pandemia de COVID-19 en la primera infancia desde la perspectiva de las necesidades esenciales de los niños. Método Se realizó una revisión integrativa de la literatura en cinco bases de datos, que incluye la identificación del problema, la formulación de una pregunta orientadora, la búsqueda de la literatura, el análisis de los datos y una síntesis de los resultados. Se incluyeron artículos originales que trataban sobre niños menores de seis años y que fueron publicados entre los años 2020-2022. A. El análisis se llevó a cabo utilizando el marco teórico de las necesidades esenciales de los niños. Resultados Se analizaron 22 artículos. Se observó una sobrecarga y un incremento del estrés en los padres. Los niños mostraron cambios en su comportamiento y patrones de sueño, un mayor uso de medios digitales y una menor participación en actividades al aire libre. Se identificaron factores de protección relacionados con el vínculo familiar, el cuidado y recibimiento del niño. El cierre de guarderías y escuelas aisló a los cuidadores de los profesionales de la educación y de otros padres, aunque la reapertura proporcionó un mayor apoyo a las familias. Las necesidades más evidentes fueron las de relaciones de apoyo contínuas, experiencias apropiadas para el desarrollo y comunidades de apoyo. Hubo menos énfasis en aspectos de protección física y establecimiento de límites. No se identificaron experiencias respecto a diferencias individuales. Conclusión El conocimiento científico destaca vulnerabilidades y aspectos positivos significativos en la atención de la salud infantil que sugieren un impacto en el bienestar y desarrollo de los niños, con repercusiones para el desempeño de los profesionales de enfermería en el ámbito de la atención primaria de salud.


ABSTRACT Objective Identify scientific knowledge regarding the implications of the COVID-19 pandemic on early childhood, specifically from the perspective of children's essential needs. Method An integrative literature review was conducted on five databases. The review process involved identifying a research problem, creating a guiding question, performing a literature search, analyzing data, and synthesizing the results. The review included original articles about children under six, published between 2020 and 2022. The theoretical framework of the child's essential needs was used for analysis. Results A total of 22 articles were analyzed. Findings indicated an increase in parental overload and stress levels. The children exhibited behavioral changes, sleep pattern disorders, increased digital media use, and reduced outdoor participation. Protective factors related to the familial bond, child care, and child reception were identified. Closure of daycare centers and schools resulted in a distance between the caregiver, the education professionals, and the fellow parents. In contrast, the reopening of those places brought added support to families. The needs, such as ongoing supportive relationships, developmentally appropriate experiences, and supportive communities, were more highlighted. Physical protection and setting boundaries were less prominent aspects. No experiences examining individual differences were identified. Conclusion The scientific knowledge points to significant vulnerabilities and certain potentialities in child health care during the COVID-19 pandemic. Those results suggest considerable impacts on child well-being and development and imply significant implications for nursing practices in Primary Health Care.


Asunto(s)
Humanos , COVID-19/psicología , Relaciones Padres-Hijo , Conducta Infantil/psicología , Cuidado del Niño , Desarrollo Infantil , Crianza del Niño , Calidad del Sueño , Duración del Sueño , Estrés Subjetivo
18.
CoDAS ; 36(1): e20220218, 2024. tab, graf
Artículo en Portugués | LILACS-Express | LILACS | ID: biblio-1528440

RESUMEN

RESUMO Objetivo Determinar evidências de validade de critério concorrente e preditiva do Instrumento de Rastreio da Comunicação de crianças de 0 a 36 meses (IRC-36). Método Participaram da pesquisa 78 pais/responsáveis de crianças que frequentam o serviço de puericultura das Unidades de Saúde da Família, além de 33 crianças com idades entre 0 e 36 meses, convidadas para segunda etapa do estudo. Na primeira etapa do estudo, 13 profissionais de saúde foram treinados para realizar a aplicação do IRC-36 nos pais/responsáveis das crianças. No segundo momento, os pais responderam a uma nova aplicação do IRC-36 e as crianças foram avaliadas com o Denver II. Resultados O IRC-36 apresentou correlação com o Denver II em mais da metade dos casos, confirmando a validade de critério concorrente do instrumento. Os resultados do IRC-36 da primeira etapa quando correlacionados com o Denver II, não apresentaram valores significativos. O valor de ponto de corte do instrumento foi 12, sendo este o valor de referência entre crianças em risco e sem risco para alteração da comunicação. O instrumento apresentou valor de acurácia dentro dos níveis preconizados e alta sensibilidade. A ocorrência de risco para alteração da comunicação apresentou-se maior na segunda aplicação do IRC-36. Conclusão O estudo apresentou evidências de validade de critério concorrente, indicando que o instrumento possui evidências de medidas de acurácia e de validade para o rastreio da comunicação de crianças de 0 a 36 meses sendo capaz de identificar risco para as alterações da comunicação.


ABSTRACT Purpose To determine evidence of concurrent and predictive criterion validity of the Communication Screening Instrument for children aged 0 to 36 months (IRC-36). Methods 78 parents/guardians of children who attend the childcare service of the Family Health Centers participated in the research, in addition to 33 children aged between 0 and 36 months, invited to the second stage of the study. In its first stage, 13 health professionals were trained to apply the IRC-36 to the children's parents/guardians. In the second moment, the parents responded to a new IRC-36 application, and the children were evaluated with Denver II. Results IRC-36 correlated with Denver II in more than half of the cases, confirming the instrument's concurrent criterion validity. IRC-36 results in the first stage did not significantly correlate with Denver II. The instrument's cutoff value was 12, which is the reference value between children at risk and not at risk of communication disorders. The instrument had high sensitivity and an accuracy value within the recommended levels. The occurrence of risk of communication changes was higher in the second IRC-36 application. Conclusion The study presented evidence of concurrent criterion validity, indicating that the instrument has evidence of accuracy and validity measures to screen communication in children aged 0 to 36 months, being able to identify the risk for communication disorders.

19.
Rev. bras. educ. espec ; 30: e0091, 2024. graf
Artículo en Portugués | LILACS-Express | LILACS | ID: biblio-1569632

RESUMEN

RESUMO Neste estudo, objetivou-se analisar a inclusão escolar de usuários de implante coclear. A pesquisa teve abordagem qualitativa, com desenho transversal e foi realizada em um hospital de alta complexidade em saúde auditiva credenciado ao Ministério da Saúde. A amostra foi por conveniência, constituída por implantados, com idades entre 4 e 17 anos e seus respectivos responsáveis legais. O fechamento amostral deu-se por saturação teórica com um total de 13 participantes. A participação no estudo foi voluntária e seguiu todas as normativas éticas vigentes. A coleta de dados foi realizada, inicialmente, por meio de caracterização sociodemográfica baseada nos prontuários e fichas sociais. Na sequência, foi realizada entrevista narrativa com os responsáveis, permitindo uma análise do corpus em profundidade. Os dados demonstraram situações vivenciadas pelos usuários de implante coclear no processo de inclusão escolar como: negativa de vagas; desconhecimento das equipes de educação; baixo desempenho; situação de bullying; preconceito; e falta de profissional para o atendimento educacional especializado. Os resultados apontaram que os usuários de implante coclear apresentam dificuldades no processo de inclusão escolar e que estas decorrem, principalmente, da falta de articulação das políticas públicas de saúde e educação no que concerne a essa população.


ABSTRACT In this study, the aim was to analyze the school inclusion of cochlear implant users. The research had a qualitative approach, with a cross-sectional design and was carried out in a hospital of high complexity in hearing health accredited by the Ministry of Health. The sample was for convenience, consisting of implanted, aged between 4 to 17 years and their respective legal guardians. The sample closure was due to theoretical saturation with a total of 13 participants. Participation in the study was voluntary and followed all current ethical regulations. Data collection was initially carried out through sociodemographic characterization based on medical records and social files. Next, a narrative interview was conducted with those responsible, allowing an in-depth analysis of the corpus. The data showed situations experienced by cochlear implant users in the school inclusion process, such as: denial of vacancies; lack of knowledge of the education teams; low performance; bullying situation; prejudice; and lack of professionals for specialized educational service. The results showed that cochlear implant users present difficulties in the process of school inclusion and that these arise, mainly, from the lack of articulation of public health and education policies with regard to this population.

20.
Rev. bras. enferm ; 77(1): e20230174, 2024.
Artículo en Inglés | LILACS-Express | LILACS, BDENF | ID: biblio-1559449

RESUMEN

ABSTRACT Objectives: to analyze nurse Josicélia Dumêt Fernandes' life story, with emphasis on her work in the psychiatry and mental health fields. Methods: historical, qualitative research. Semi-structured interviews and documentary research were used as data collection techniques, collected from September to October 2021. For data analysis, we opted for the content analysis method and comparison with the Foucauldian philosophical framework. Results: four categories emerged: Transforming herself and mental health practices; (Re)framing professional practice; Nursing practice and power relations; and The paths and implications in the psychiatry and mental health fields. Final Considerations: the study of the biographer demonstrates a search for transformation of herself and mental health practices, with a rupture in paradigms and reframing of her practice in psychiatry and mental health.


RESUMEN Objetivos: analizar la historia de vida de la enfermera Josicélia Dumêt Fernandes, con énfasis en su trabajo en el área de psiquiatría y salud mental. Métodos: investigación histórica, cualitativa. Se utilizaron como técnicas de recolección de datos entrevistas semiestructuradas e investigación documental, recolectados de septiembre a octubre de 2021. Para el análisis de los datos, se optó por el método de análisis de contenido y comparación con el marco filosófico foucaultiano. Resultados: surgieron cuatro categorías: Transformación del yo y de las prácticas de salud mental; El (re)significado de la práctica profesional; Práctica de enfermería y relaciones de poder; y Los caminos e implicaciones en el campo de la psiquiatría y la salud mental. Consideraciones Finales: el estudio de la biógrafa demuestra una búsqueda de transformación de ella misma y de las prácticas de salud mental, rompiendo paradigmas y resignificando su práctica en psiquiatría y salud mental.


RESUMO Objetivos: analisar a história de vida da enfermeira Josicélia Dumêt Fernandes, com ênfase em sua atuação na área da psiquiatria e saúde mental. Métodos: pesquisa histórica, do tipo qualitativa. Foram utilizadas como técnicas de coleta de dados a entrevista semiestruturada e a pesquisa documental, coletados de setembro a outubro de 2021. Para a análise dos dados, optou-se pelo método de análise de conteúdo e a confrontação com o referencial filosófico foucaultiano. Resultados: emergiram quatro categorias: A transformação de si e das práticas em saúde mental; A (re)significação da prática profissional; A prática de enfermagem e as relações de poder; e Os caminhos e implicações no campo da psiquiatria e da saúde mental. Considerações Finais: o estudo da biografada demonstra uma busca por transformação de si e das práticas de saúde mental, com ruptura de paradigmas e ressignificações da sua prática em psiquiatria e saúde mental.

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