Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 95
Filtrar
Mais filtros

Intervalo de ano de publicação
1.
Int J Mol Sci ; 25(5)2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38474135

RESUMO

Nucleotides, glycosaminoglycans, and omega-3 essential fatty acids (O3s) could be used for improving skin health, although their modes of action, alone or in combination, are not yet fully understood. To gain some insight into these mechanisms, we performed two in vitro tests and one in vivo pilot trial. The effects on human dermal fibroblast proliferation and migration were evaluated with the following compounds and combinations: 0.156 mg/mL O3s, 0.0017 mg/mL hyaluronic acid (HA), 0.0004 mg/mL dermatan sulfate (DS), 0.0818 mg/mL nucleotides, and [O3s + HA + DS] and [O3s + HA + DS + nucleotides] at the same concentrations. In both in vitro assays, adding nucleotides to [O3s + HA + DS] provided significant improvements. The resulting combination [O3s + HA + DS + nucleotides] was then tested in vivo in dogs with atopic dermatitis by oral administration of a supplement providing a daily amount of 40 mg/kg nucleotides, 0.9 mg/kg HA, 0.18 mg/kg DS, 53.4 mg/kg EPA, and 7.6 mg/kg DHA. After 30 days, the pruritus visual analog scale (pVAS) score was significantly reduced, and no adverse effects were observed. In conclusion, the combination of nucleotides plus glycosaminoglycans and O3s could serve as a useful therapeutic alternative in skin health applications.


Assuntos
Dermatite Atópica , Doenças do Cão , Ácidos Graxos Ômega-3 , Humanos , Animais , Cães , Dermatite Atópica/tratamento farmacológico , Saccharomyces cerevisiae , Doenças do Cão/tratamento farmacológico , Prurido/tratamento farmacológico , Ácidos Graxos Ômega-3/uso terapêutico , Glicosaminoglicanos/uso terapêutico , Ácido Hialurônico/uso terapêutico , Proliferação de Células , Fibroblastos
2.
J Med Genet ; 59(10): 1017-1023, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35121649

RESUMO

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in NF1 Recently, NF1 testing has been included as a clinical criterion for NF1 diagnosis. Additionally, preconception genetic counselling in patients with NF1 focuses on a 50% risk of transmitting the familial variant as the risk of having a sporadic NF1 is considered the same as the general population. METHODS: 829 individuals, 583 NF1 sporadic cases and 246 patients with NF1 with documented family history, underwent genetic testing for NF1. Genotyping and segregation analysis of NF1 familial variants was determined by microsatellite analysis and NF1 sequencing. RESULTS: The mutational analysis of NF1 in 154 families with two or more affected cases studied showed the co-occurrence of two different NF1 germline pathogenic variants in four families. The estimated mutation rate in those families was 3.89×10-3, 20 times higher than the NF1 mutation rate (~2×10-4) (p=0.0008). Furthermore, the co-occurrence of two different NF1 germline pathogenic variants in these families was 1:39, 60 times the frequency of sporadic NF1 (1:2500) (p=0.003). In all cases, the de novo NF1 pathogenic variant was present in a descendant of an affected male. In two cases, variants were detected in the inherited paternal wild-type allele. CONCLUSIONS: Our results, together with previous cases reported, suggest that the offspring of male patients with NF1 could have an increased risk of experiencing de novo NF1 pathogenic variants. This observation, if confirmed in additional cohorts, could have relevant implications for NF1 genetic counselling, family planning and NF1 genetic testing.


Assuntos
Neurofibromatose 1 , Genes da Neurofibromatose 1 , Aconselhamento Genético , Testes Genéticos , Humanos , Masculino , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/epidemiologia , Neurofibromatose 1/genética , Neurofibromina 1/genética
3.
Ultraschall Med ; 44(2): e118-e125, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34820795

RESUMO

PURPOSE: High-frequency ultrasound allows the accurate identification of neurofibromas in neurofibromatosis type 1 (NF1). This study aimed to analyze the ultrasound features of neurofibromas in children with NF1, to establish a classification based on the clinical and sonographic patterns of the different types of neurofibromas, and to evaluate the interobserver correlation coefficient (κ) of this classification. MATERIALS AND METHODS: In this prospective, single referral center observational study, clinical and ultrasound findings of neurofibromas in children diagnosed with NF 1 were analyzed. To identify the ultrasound patterns, a cluster analysis allowing the inclusion of both clinical and ultrasound data was designed. The κ coefficient was calculated using 9 external evaluators. RESULTS: 265 ultrasound scans were performed on a total of 242 neurofibromas from 108 children diagnosed with NF1. Cluster analysis allowed the identification of 9 patterns (Snedecor's F, P < 0.001) classified as "classic" cutaneous neurofibroma, blue-red neurofibroma, pseudoatrophic neurofibroma, nodular subcutaneous neurofibroma, diffuse subcutaneous neurofibroma, congenital cutaneous neurofibroma, congenital plexiform neurofibroma, congenital diffuse and plexiform neurofibroma, and subfascial neurofibroma. The κ coefficient of the interobserver ratings was 0.82. CONCLUSION: Patterns identified in the cluster analysis allow neurofibromas to be classified with a very high interobserver correlation.


Assuntos
Neurofibroma Plexiforme , Neurofibroma , Neurofibromatose 1 , Criança , Humanos , Neurofibromatose 1/diagnóstico por imagem , Neurofibroma Plexiforme/diagnóstico por imagem , Estudos Prospectivos , Neurofibroma/diagnóstico por imagem , Análise por Conglomerados
4.
Occup Environ Med ; 79(5): 315-318, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35074885

RESUMO

OBJECTIVE: We estimate the seroprevalence of SARS-CoV-2 antibodies among a sample of firefighters in the Los Angeles (LA), California fire department in October 2020 and compare demographic and contextual factors for seropositivity. METHODS: We conducted a serological survey of firefighters in LA, California, USA, in October 2020. Individuals were classified as seropositive for SARS-CoV-2 if they tested positive for IgG, IgM or both. We compared demographic and contextual factors for seropositivity. RESULTS: All firefighters in LA, California, USA were invited to participate in our study, but only roughly 21% participated. Of 713 participants with valid serological data, 8.8% tested positive for SARS-CoV-2 antibodies, and among the 686 with complete survey data 8.9% tested positive for antibodies. Seropositivity was not associated with gender, age or race/ethnicity. Seropositivity was highest among firefighters who reported working in the vicinity of LA International Airport, which had a known outbreak in July 2020. CONCLUSIONS: Seroprevalence among firefighters in our sample was 8.8%, however, we lack a full workplace seroprevalence estimate to compare the relative magnitude against general population seroprevalence (15%). Workplace safety protocols, such as access to personal protective equipment and testing, can mitigate increased risk of infection at work, and may have eliminated differences in disease burden by geography and race/ethnicity in our sample.


Assuntos
COVID-19 , Bombeiros , Anticorpos Antivirais , COVID-19/epidemiologia , Humanos , Los Angeles/epidemiologia , SARS-CoV-2 , Estudos Soroepidemiológicos
5.
Int J Mol Sci ; 23(19)2022 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-36233161

RESUMO

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). Three patients presented brain iron deposits with Fe-sensitive MRI sequences and mutations in FBXO7, GLB1, and KIF1A, suggesting an NBIA-like phenotype. Eleven patients showed very early-onset ataxia and CA with cortical hyperintensities caused by mutations in ITPR1, KIF1A, SPTBN2, PLA2G6, PMPCA, and PRDX3. The novel variants were investigated by structural modelling, luciferase analysis, transcript/minigenes studies, or immunofluorescence assays. Our findings expand the phenotypes and the genetics of MDs and ataxias with early-onset CA and cortical hyperintensities and highlight that the abnormal brain iron accumulation or early cerebellar gliosis may resembling an NBIA phenotype.


Assuntos
Transtornos dos Movimentos , Doenças Neurodegenerativas , Ataxia/genética , Encéfalo , Humanos , Ferro , Cinesinas , Mutação , Doenças Neurodegenerativas/genética , Fenótipo , Fosfotransferases (Aceptor do Grupo Álcool)/genética
6.
Rev Invest Clin ; 74(3): 121-130, 2022 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-35345064

RESUMO

Guillain-Barré syndrome (GBS) is the most frequent cause of acute flaccid paralysis and if not diagnosed and treated timely, a significant cause of long-term disability. Incidence in Latin America ranges from 0.71 to 7.63 cases/100,000 person-years. Historically, GBS has been linked to infections (mainly gastrointestinal by Campylobacter jejuni) and vaccines (including those against severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2]); however, a trigger cannot be detected in most cases. Regarding SARS-CoV-2, epidemiological studies have found no association with its development. Acute motor axonal neuropathy is the most common electrophysiological variant in Mexico and Asian countries. Intravenous immunoglobulin or plasma exchanges are still the treatment cornerstones. Mortality in Mexico can be as high as 12%. Avances in understanding the drivers of nerve injury in GBS that may provide the basis for developing targeted therapies have been made during the past decade; despite them, accurate criteria for selecting patients requiring acute treatment, prognostic biomarkers, and novel therapies are still needed. The newly-developed vaccines against SARS-CoV-2 have raised concerns regarding the potential risk for developing GBS. In the midst of coronavirus disease 2019 and vaccination campaigns against SARS-CoV-2, this review discusses the epidemiology, clinical presentation, management, and outcomes of GBS in Mexico.


Assuntos
COVID-19 , Síndrome de Guillain-Barré , Vacinas , Vacinas contra COVID-19 , Síndrome de Guillain-Barré/epidemiologia , Síndrome de Guillain-Barré/etiologia , Síndrome de Guillain-Barré/terapia , Humanos , México/epidemiologia , SARS-CoV-2
7.
Aten Primaria ; 54(5): 102288, 2022 05.
Artigo em Espanhol | MEDLINE | ID: mdl-35477080

RESUMO

Breast cancer is the leading cause of death in the world among women. The Spanish National Health System (SNHS) introduced population-based breast cancer screening in 1990. As in most European programs, risk is identified on the basis of age and a mammogram is offered every two years to women aged 50-69 years. Scientific evidence is moving toward personalized screening, based on individual risk. This article presents the clinical trials that will evaluate the efficacy of personalized screening and some studies carried out in our environment on the effect of informing women of the benefits and adverse effects of screening or the acceptability and feasibility of offering personalized screening, in the Shared Decision Making context. The Preventive Activities and Health Promotion Program can help transform screening in our SNHS.


Assuntos
Neoplasias da Mama , Detecção Precoce de Câncer , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/prevenção & controle , Feminino , Humanos , Mamografia , Programas de Rastreamento , Atenção Primária à Saúde
8.
J Antimicrob Chemother ; 76(11): 2923-2931, 2021 10 11.
Artigo em Inglês | MEDLINE | ID: mdl-34379758

RESUMO

INTRODUCTION: Further optimization of therapeutic drug monitoring (TDM) for aminoglycosides (AGs) is urgently needed, especially in special populations such as those with cystic fibrosis (CF), >50% of whom develop ototoxicity if treated with multiple courses of IV AGs. This study aimed to empirically test a pharmacokinetic (PK) model using Bayesian estimation of drug exposure in the deeper body tissues to determine feasibility for prediction of ototoxicity. MATERIALS AND METHODS: IV doses (n = 3645) of tobramycin and vancomycin were documented with precise timing from 38 patients with CF (aged 8-21 years), including total doses given and total exposure (cumulative AUC). Concentration results were obtained at 3 and 10 h for the central (C1) compartment. These variables were used in Bayesian estimation to predict trough levels in the secondary tissue compartments (C2 trough) and maximum concentrations (C2max). The C1 and C2 measures were then correlated with hearing levels in the extended high-frequency range. RESULTS: Patients with more severe hearing loss were older and had a higher number of tobramycin C2max concentrations >2 mg/L than patients with normal or lesser degrees of hearing loss. These two factors together significantly predicted average high-frequency hearing level (r = 0.618, P < 0.001). Traditional metrics such as C1 trough concentrations were not predictive. The relative risk for hearing loss was 5.8 times greater with six or more tobramycin courses that exceeded C2max concentrations of 3 mg/L or higher, with sensitivity of 83% and specificity of 86%. CONCLUSIONS: Advanced PK model-informed analysis predicted ototoxicity risk in patients with CF treated with tobramycin and demonstrated high test prediction.


Assuntos
Fibrose Cística , Ototoxicidade , Aminoglicosídeos/efeitos adversos , Antibacterianos/efeitos adversos , Teorema de Bayes , Fibrose Cística/complicações , Fibrose Cística/tratamento farmacológico , Humanos , Tobramicina/efeitos adversos
9.
Molecules ; 26(2)2021 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-33435343

RESUMO

Water-in-oil-in-water (W1/O/W2) emulsions are emulsion-based systems where the dispersed phase is an emulsion itself, offering great potential for the encapsulation of hydrophilic bioactive compounds. However, their formation and stabilization is still a challenge mainly due to water migration, which could be reduced by lipid phase gelation. This study aimed to assess the impact of lipid phase state being liquid or gelled using glyceryl stearate (GS) at 1% (w/w) as well as the hydrophilic emulsifier (T80: Tween 80 or lecithin) and the oil type (MCT:medium chain triglyceride or corn oil (CO) as long chain triglyceride) on the formation and stabilization of chlorophyllin W1/O/W2 emulsions. Their colloidal stability against temperature and light exposure conditions was evaluated. Gelling both lipid phases (MCT and CO) rendered smaller W1 droplets during the first emulsification step, followed by formation of W1/O/W2 emulsions with smaller W1/O droplet size and more stable against clarification. The stability of W1/O/W2 emulsions was sensitive to a temperature increase, which might be related to the lower gelling degree of the lipid phase at higher temperatures. This study provides valuable insight for the formation and stabilization of W1/O/W2 emulsions with gelled lipid phases as delivery systems of hydrophilic bioactive compounds under common food storage conditions.


Assuntos
Emulsificantes/química , Lipídeos/química , Óleo de Milho/química , Emulsões , Géis/química , Interações Hidrofóbicas e Hidrofílicas , Tamanho da Partícula , Polissorbatos/química , Água/química
10.
Arch Psychiatr Nurs ; 35(1): 49-55, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33593515

RESUMO

The objective of this study was to identify the conditions of life of patients with mental and behavioral disorders admitted to a specialized hospital in an inner city in the state of São Paulo, Brazil, and their possible relationship with inequities and social exclusion. The information about the conditions of life was gathered through medical records and structured interviews with the patients. The data collected were compared with the recent literature on the subject. We conclude that the conditions of health, life and social vulnerability are associated with changes in family and social relationships, stigma, discrimination and prejudice, and barriers to the exercise of citizenship for these patients. Findings confirm the need for equity in this group's access to the exercise of human rights.


Assuntos
Transtornos Mentais , Condições Sociais , Brasil , Hospitais Psiquiátricos , Humanos , Preconceito
11.
J Dtsch Dermatol Ges ; 19(1): 73-80, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33448128

RESUMO

BACKGROUND AND OBJECTIVE: Clinicopathological features of cutaneous neurofibromas presenting as large irregularly shaped congenital café-au-lait macules (CALM) in Neurofibromatosis type 1 (NF1) patients have not been well characterized. We aimed to analyze the histopathological findings of large "atypical" CALM in children with NF1. PATIENTS AND METHODS: In this retrospective observational study we analyzed histopathological and immunostaining features of 21 biopsy specimens from 18 large hyperpigmented macules with irregular borders with or without hypertrichosis present during the first months of life in NF1 diagnosed children. RESULTS: Of the 21 biopsies, ten showed a diffuse neurofibroma pattern and four exhibited characteristics of plexiform neurofibroma (PNF). In twelve specimens we observed groups of fusiform cells arranged linearly mimicking a small caliber nerve trunk with abnormal morphology. Repeated biopsies from two of these lesions performed at different ages showed transformation to a plexiform pattern. An increased interstitial cellularity was observed in 17 samples that was more evident around eccrine glands in 16 or accompanying hair follicles and vascular structures in twelve samples. All these cells had immunoreactivity for S100-protein, CD68 and were Melan-A positive in 15 samples. CONCLUSION: Clinicopathological findings of congenital cutaneous neurofibromas provide early diagnostic clues of NF1 with high relevance for monitoring of these patients.


Assuntos
Neurofibromatose 1 , Neoplasias Cutâneas , Manchas Café com Leite/diagnóstico , Criança , Humanos , Lactente , Neurofibroma , Neurofibromatose 1/diagnóstico , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico
12.
Emerg Infect Dis ; 25(1)2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30560775

RESUMO

We conducted an observational study from January 2016 through January 2017 of patients admitted to a reference pediatric hospital in Madrid, Spain, for neurologic symptoms and enterovirus infection. Among the 30 patients, the most common signs and symptoms were fever, lethargy, myoclonic jerks, and ataxia. Real-time PCR detected enterovirus in the cerebrospinal fluid of 8 patients, nasopharyngeal aspirate in 17, and anal swab samples of 5. The enterovirus was genotyped for 25 of 30 patients; enterovirus A71 was the most common serotype (21/25) and the only serotype detected in patients with brainstem encephalitis or encephalomyelitis. Treatment was intravenous immunoglobulins for 21 patients and corticosteroids for 17. Admission to the pediatric intensive care unit was required for 14 patients. All patients survived. At admission, among patients with the most severe disease, leukocytes were elevated. For children with brainstem encephalitis or encephalomyelitis, clinicians should look for enterovirus and not limit testing to cerebrospinal fluid.


Assuntos
Encefalite Viral/virologia , Encefalomielite/virologia , Enterovirus Humano A/isolamento & purificação , Infecções por Enterovirus/virologia , Epidemias , Doenças do Sistema Nervoso/virologia , Criança , Pré-Escolar , Encefalite Viral/epidemiologia , Encefalomielite/epidemiologia , Infecções por Enterovirus/epidemiologia , Feminino , Humanos , Lactente , Masculino , Doenças do Sistema Nervoso/epidemiologia , Estudos Prospectivos , Espanha/epidemiologia
13.
Pediatr Dermatol ; 34(3): 271-276, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28318056

RESUMO

BACKGROUND/OBJECTIVES: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. METHODS: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015. RESULTS: All patients had pigmentary changes, alone (n = 39) or in combination with neurofibromas (n = 1). Twenty-four cases fulfilling the definition of MNF1 had six or more café au lait spots with or without freckling within the affected segment. They all lacked any other National Institutes of Health criteria of NF1. No patient had juvenile xanthogranuloma (JXG) or nevus anemicus (NA). Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). CONCLUSIONS: Pigmentary changes are the most frequent presentation of MNF1 in children. MNF1 must be considered with segmentary distribution of freckling and café au lait spots. Other frequent cutaneous findings in NF1, such as JXG or NA, seem to be exceptional in MNF1. Although the possibility of systemic complications and cancer risk seem to be low, patients must be followed up.


Assuntos
Neurofibromatose 1/diagnóstico , Dermatopatias/etiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Espanha
15.
Ethn Dis ; 26(1): 51-60, 2016 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-26843796

RESUMO

OBJECTIVE: Our objective was to determine the effectiveness of combining positive affect and self-affirmation strategies with motivational interviewing in achieving blood pressure control among hypertensive African Americans (AA) compared with AA hypertensives in an education-only control group. DESIGN: Randomized trial. SETTING: Ambulatory practices in the South Bronx and Harlem, New York City. PARTICIPANTS: African American adults with uncontrolled hypertension. INTERVENTIONS: Participants were randomized to a positive affect and self-affirmation intervention or an education control group. The positive affect and self-affirmation intervention involved having participants think about things that made them happy and that reminded them of their core values on a daily basis. These strategies were reinforced every two months through motivational interviewing. The control arm received a workbook of strategies on blood pressure control. All participants were called every two months for one year. MAIN OUTCOMES: Blood pressure control rate. RESULTS: A total of 238 participants were randomized. The average age was 56 ± 11 years, approximately 70% were female, 80% were not married, and up to 70% had completed high school. There was no difference in control rates between the intervention and the control group. However, at one year, female participants were more likely to be controlled. Participants with high depressive symptoms or high perceived stress at baseline were less likely to be controlled. CONCLUSIONS: While this study did not demonstrate an intervention effect, it does provide important insight into the psychosocial factors that may underlie blood pressure control in African Americans. Implications for future behavioral intervention trials are discussed.


Assuntos
Negro ou Afro-Americano/psicologia , Hipertensão/tratamento farmacológico , Entrevista Motivacional , Adulto , Pressão Sanguínea , Feminino , Comportamentos Relacionados com a Saúde , Humanos , Hipertensão/etnologia , Hipertensão/psicologia , Masculino , Pessoa de Meia-Idade , Cidade de Nova Iorque , Projetos de Pesquisa
17.
Hum Mutat ; 36(11): 1052-63, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26178382

RESUMO

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients.


Assuntos
Substituição de Aminoácidos , Códon , Mutação de Sentido Incorreto , Neurofibromina 1/genética , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Fenótipo , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Nanismo/genética , Feminino , Estudos de Associação Genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Neurofibromina 1/química , Adulto Jovem
18.
Semin Oncol Nurs ; 40(2): 151580, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38290928

RESUMO

OBJECTIVES: This manuscript aims to provide an extensive review of the literature, synthesize findings, and present substantial insights on the current state of transitional care navigation. Additionally, the existing models of care, pertaining to the concept and approach to transitional care navigation, will be highlighted. METHODS: An extensive search was conducted though using multiple search engines, topic-specific key terminology, eligibility of studies, as well as a limitation to only literature of existing relevance. Integrity of the evidence was established through a literature review matrix source document. A synthesis of nursing literature from organizations and professional publications was used to generate a comparison among various sources of evidence for this manuscript. Primary evidence sources consisted of peer-reviewed journals and publications from professional organizations such as the AHRQ, Academic Search Premier, CINAHL Plus with Full Text, and the Talbot research library. RESULTS: A total of five systematic reviews (four with meta-analysis) published between 2016 and 2022 and conducted in several countries (Brazil, Korea, Singapore, and the US) were included in this review. A combined total of 105 studies were included in the systematic reviews with 53 studies included in meta-analyses. The review of the systematic reviews identified three overarching themes: care coordination, care transition, and patient navigation. Care coordination was associated with an increase in care quality rating, increased the health-related quality of life in newly diagnosed patients, reduced hospitalization rates, reduced emergency department visits, timeliness in care, and increased appropriateness of healthcare utilization. Transitional care interventions resulted to reduced average number of admissions in the intervention (I) group vs control (C) (I = 0.75, C = 1.02) 180 days after a 60-day intervention, reduced readmissions at 6 months, and reduced average number of visits 180 days after 60-day intervention (I = 2.79, C = 3.60). Nurse navigators significantly improved the timeliness of care from cancer screening to first-course treatment visit (MD = 20.42, CI = 8.74 to 32.10, P = .001). CONCLUSION: The care of the cancer patient entails treatments, therapies, and follow-up care outside of the hospital setting. These transitions can be challenging as they require coordination and collaboration among various health care sites. The attributes of transitional care navigation overlap with care coordination, care transition, and patient navigation. There is an opportunity to formally develop a transitional care navigation model to effectively addresses the challenges in care transitions for patient including barriers to health professional exchange of information or communication across care settings and the complexity of coordination between care settings. The transitional care navigation and clinic model developed at a free-standing NCI-designated comprehensive cancer center is a multidisciplinary approach created to close the gaps in care from hospital to home. IMPLICATIONS FOR NURSING PRACTICE: A transitional care navigation model aims to transform the existing perspectives and viewpoints of hospital discharge and transition of care to home or post-acute care settings as two solitary processes to that of a collective approach to care. The model supports provides an integrated continuum of quality, comprehensive care that supports patient compliance with treatment regimens, reinforces patient and caregiver education, and improves health outcomes.


Assuntos
Cuidado Transicional , Humanos , Continuidade da Assistência ao Paciente/organização & administração , Neoplasias/terapia , Neoplasias/enfermagem , Enfermagem Oncológica/organização & administração , Navegação de Pacientes/organização & administração , Cuidado Transicional/organização & administração
19.
PLoS One ; 19(6): e0304159, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38870215

RESUMO

INTRODUCTION: Adverse events in health care affect 8% to 12% of patients admitted to hospitals in the European Union (EU), with surgical adverse events being the most common types reported. AIM: SAFEST project aims to enhance perioperative care quality and patient safety by establishing and implementing widely supported evidence-based perioperative patient safety practices to reduce surgical adverse events. METHODS: We will conduct a mixed-methods hybrid type III implementation study supporting the development and adoption of evidence-based practices through a Quality Improvement Learning Collaborative (QILC) in co-creation with stakeholders. The project will be conducted in 10 hospitals and related healthcare facilities of 5 European countries. We will assess the level of adherence to the standardised practices, as well as surgical complications incidence, patient-reported outcomes, contextual factors influencing the implementation of the patient safety practices, and sustainability. The project will consist of six components: 1) Development of patient safety standardised practices in perioperative care; 2) Guided self-evaluation of the standardised practices; 3) Identification of priorities and actions plans; 4) Implementation of a QILC strategy; 5) Evaluation of the strategy effectiveness; 6) Patient empowerment for patient safety. Sustainability of the project will be ensured by systematic assessment of sustainability factors and business plans. Towards the end of the project, a call for participation will be launched to allow other hospitals to conduct the self-evaluation of the standardized practices. DISCUSSION: The SAFEST project will promote patient safety standardized practices in the continuum of care for adult patients undergoing surgery. This project will result in a broad implementation of evidence-based practices for perioperative care, spanning from the care provided before hospital admission to post-operative recovery at home or outpatient facilities. Different implementation challenges will be faced in the application of the evidence-based practices, which will be mitigated by developing context-specific implementation strategies. Results will be disseminated in peer-reviewed publications and will be available in an online platform.


Assuntos
Segurança do Paciente , Assistência Perioperatória , Melhoria de Qualidade , Humanos , Assistência Perioperatória/normas , Segurança do Paciente/normas , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/epidemiologia , Europa (Continente)
20.
Diagnostics (Basel) ; 14(5)2024 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-38472964

RESUMO

BACKGROUND: To evaluate changes in pattern electroretinogram (pERG) and pattern visual evoked potentials (pVEP) in patients with long-lasting type 1 diabetes without diabetic retinopathy (DR). METHODS: Prospective study involving 92 eyes divided into two groups. The diabetic group included 46 eyes of 23 patients with type 1 diabetes (T1DM); the control group included 23 age-matched healthy subjects. pERG and pVEP were assessed using the RETI-port/scan21 recording software (version 1021.3.0.0). RESULTS: Mean age was 48 ± 9.77 years for the diabetic group and 51.7 ± 4.75 years for the control group. The mean duration of diabetes was 28.88 ± 8.04 years. The mean HbA1c value was 7.29 ± 0.89%. There were no differences in the age or sex distribution. Regarding the pERG, T1DM patients exhibited a significant decrease in the amplitude of the P50 and N95 waves compared to the control group (p = 0.018 and p = 0.035, respectively), with no differences in the peak time of each component. pVEP showed no significant changes in either peak time or amplitude of the different components. CONCLUSIONS: Long-term T1DM patients without DR showed changes in the amplitude of pERG waves with preserved peak times. We did not observe modifications in pVEP. pERG may serve as a subclinical marker of ganglion cell damage in long-term T1DM patients.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA