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1.
J Pain Symptom Manage ; 66(3): 270-280.e8, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37380147

RESUMO

CONTEXT/OBJECTIVES: A critical frontier for palliative medicine is to develop systems to routinely and equitably address the palliative care (PC) needs of seriously ill populations. METHODS: An automated screen identified Medicare primary care patients who had serious illness based on diagnosis codes and utilization patterns. A stepped-wedge design was used to evaluate a six-month intervention through which a healthcare navigator assessed these seriously ill patients and their care partners for PC needs in the domains of 1) physical symptoms, 2) emotional distress, 3) practical concerns, and 4) advance care planning (ACP) via telephone surveys. Identified needs were addressed with tailored PC interventions. RESULTS: A total of 292/2175 (13.4%) patients screened positive for serious illness. A total of 145 completed an intervention phase; 83 completed a control phase. Severe physical symptoms were identified in 27.6%, emotional distress in 57.2%, practical concerns in 37.2%, and ACP needs in 56.6%. Twenty-five intervention patients (17.2%) were referred to specialty PC compared to six control patients (7.2%). Prevalence of ACP notes increased 45.5%-71.7% (p = 0.001) during the intervention and remained stable during the control phase. Quality of life remained stable during the intervention and declined 7.4/10-6.5/10 (P =0.04) during the control phase. CONCLUSION: Through an innovative program, patients with serious illness were identified from a primary care population, assessed for PC needs, and offered specific services to meet those needs. While some patients were appropriate for specialty PC, even more needs were addressed without specialty PC. The program resulted in increased ACP and preserved quality of life.


Assuntos
Planejamento Antecipado de Cuidados , Enfermagem de Cuidados Paliativos na Terminalidade da Vida , Idoso , Humanos , Estados Unidos , Cuidados Paliativos/métodos , Qualidade de Vida , Pacientes Ambulatoriais , Medicare
2.
Ann Ig ; 35(3): 308-318, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35861692

RESUMO

Introduction: In paediatrics, the word "humanization" means to care for the whole patient's family. It is vital to preserve a balanced relationship between family members to help the healing process for the young sufferer. How do we ensure that all the strategies adopted up to now have positively reached their objectives of humanization? How then can we measure hospital users' perception? The purpose of this research project is to identify the main factors that influence users' opinion about the quality of environment in paediatrics through a qualitative analysis on users' well-being. Monitoring the humanization level achieved by hospitals and testing the effectiveness of spaces devoted to host young people, may be considered essential phases in gathering new useful evidences as well as to identify potential emerging guidelines. Methods: Operative measurements were supported by the LpCp-tool, an effective tool that includes a questionnaire-based investigation and a processing software. The tool was then adapted to the specific explored field. The investigation was applied in three hospitals in Lombardy Region (Italy). Results: The most influent factors in users' perception were the space comfort and the standards of security services. Hospital staff generally had a worse opinion than patients/visitors on all items. Under no circumstances must users' involvement relevance be overlooked. Conclusions: The research highlights the relevance of the environmental well-being and involvement of users' in the decision-making processes, as well as the absolute requirement of a multicultural context.


Assuntos
Atenção à Saúde , Hospitais , Humanos , Criança , Adolescente , Itália , Inquéritos e Questionários
3.
Molecules ; 29(1)2023 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-38202607

RESUMO

Unreactive C-H bond activation is a new horizon for frustrated Lewis pair (FLP) chemistry. This study provides a systematic assessment of the catalytic reactivity of recently reported intra-molecular FLPs on the activation of typical inert C-H bonds, including 1-methylpyrrole, methane, benzyl, propylene, and benzene, in terms of density functional theory (DFT) calculations. The reactivity of FLPs is evaluated according to the calculated reaction thermodynamic and energy barriers of C-H bond activation processes in the framework of concerted C-H activation mechanisms. As for 1-methylpyrrole, 14 types of N-B-based and 15 types of P-B-based FLPs are proposed to be active. Although none of the evaluated FLPs are able to catalyze the C-H activation of methane, benzyl, or propylene, four types of N-B-based FLPs are suggested to be capable of catalyzing the activation of benzene. Moreover, the influence of the strength of Lewis acid (LA) and Lewis base (LB), and the differences between the influences of LA and LB on the catalytic reactivity of FLPs, are also discussed briefly. This systematic assessment of the catalytic activity of FLPs should provide valuable guidelines to aid the development of efficient FLP-based metal-free catalysts for C-H bond activation.

4.
Toxics ; 10(11)2022 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-36355950

RESUMO

Pollutant discharge causing the deterioration of the watershed environment has seriously threatened human health and ecosystem function. The importance of improving the risk warning system is becoming more and more prominent. Traditional chemical risk assessment methods focused on toxicity and the exposure of pollutants without considering the impact of persistent pollutants in different environmental media. In this study, a new approach was proposed to reflect multi-dimensional evaluation with a synthetic risk factor (SRF) of pollutants. The integrating parameters of SRF include toxicity endpoint values, environmental exposure level, persistent properties, and compartment features. Selected pesticides, perfluorinated compounds, organophosphate esters and endocrine disruptors were analyzed by the proposed and traditional methods. The results showed a higher risk outcome using SRF analysis for PFOS, imazalil, testosterone, androstenedione and bisphenol A, which were different from those obtained by the traditional method, which were consistent with existing risk management. The study demonstrated that the SRF method improved the risk assessment of various pollutants in different environmental media in a more robust fashion, and also provided a more accurate decision basis for ecological environment protection.

5.
Med Clin North Am ; 106(6): 971-986, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36280340

RESUMO

As many as 15% to 20% of patients with asthma have incompletely or poorly controlled asthma despite treatment with inhaled corticosteroids and long-acting beta-agonist bronchodilators. They are vulnerable to burdensome symptoms, limitations to their exercise capacity, and asthma attacks that can be frightening and potentially life-threatening. This article outlines a systematic approach to their evaluation, attempting to identify remediable factors that are making their asthma more severe than most other persons with asthma. This approach includes an emphasis on ensuring the correct diagnosis, minimizing exposures to stimuli that worsen airway inflammation, alleviating modifiable comorbidities such as chronic rhinosinusitis and gastroesophageal reflux, and supporting regular medication adherence and effective technique for administering inhaled medications. A basic diagnostic laboratory work-up is recommended, to be modified and amplified according to individual patient needs.


Assuntos
Asma , Refluxo Gastroesofágico , Humanos , Broncodilatadores/uso terapêutico , Asma/diagnóstico , Asma/tratamento farmacológico , Corticosteroides/uso terapêutico , Inflamação , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/tratamento farmacológico
6.
Front Plant Sci ; 13: 959810, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36247548

RESUMO

As global health care demand continues to increase, medicinal plant productivity must progress without exhausting critical environmental resources. Hence, it is important to explore practices that can improve the quality, safety, and sustainability of medicinal plants, as well as ecological stability. Organic farming has recently gained significance as a sustainable cultivation alternative owing to increased awareness of the adverse effects of conventional cultivation method. Here, this study aimed to investigate the feasibility of organic farming as a solution for sustainable cultivation of medicinal plants from multiple perspectives and long-term benefits to the environment. Organic agricultural practices of medicinal plants were evaluated from a multi-dimensional perspective (environment, economy, and society) using extensive research data and literature and field surveys. Data from medicinal plant cultivation in Inner Mongolia were acquired for 76 sites from four data stations between 2014 and 2021. Data analysis revealed that organic medicinal plants can improve safety by reducing pesticide exposure risks. Simultaneously, organic agriculture of medicinal plants can improve biodiversity by effectively reducing pesticide and fertilizer use, which also provides natural safe products for health care. With the improvement of quality, the retail price will have a certain advantage, which will improve the income of farmers. Moreover, organic agriculture enhanced profitability because of the higher organic premium on medicinal plant products and improved ecosystem stability by increasing plant diversity. The findings of this study suggest that organic cultivation strategies can improve the quality and safety of medicinal plants and further provide a basis for promoting the sustainable development and ecological stability of medicinal plants. However, not all medicinal plant cultivators are guaranteed to adopt organic farming practices, but if all technological elements are correctly applied, the system can be maintained sustainably to expand the area of organically cultivated plants in the future.

7.
Disabil Rehabil ; 44(24): 7600-7609, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-34612133

RESUMO

PURPOSE: Explore smartphone apps that may be recommended by clinicians for the self-management of low back pain. METHODS: Prospectively registered systematic assessment of self-contained apps for self-management of low back pain on the Google Play and Apple App stores (Oceania), including ≥1 NICE low back pain and sciatica clinical guideline-recommended component and functioning without health professional input. Outcomes were quality (Mobile App Rating Scale; MARS), and self-management (Self-Management Support Checklist; SMS-14) and behaviour change potential (App Behaviour Change Scale; ABACUS). RESULTS: 25 apps were included. The average quality of included apps was acceptable (Mean MARS score of 3.9 out of a maximum possible 5). The self-management support and behaviour change potential of included apps appeared low (mean SMS-14 score was 3.4/14; mean ABACUS score was 5.4/21). The apps showed no significant correlation between app consumer ratings and MARS scores. App quality was significantly correlated with app price (p = 0.049) but not consumer ratings, however, these findings were based on a small number of studies and the overall model was not significant. CONCLUSIONS: Smartphone apps for the self-management of low back pain are of average to good quality, with questionable potential for self-management and behaviour change. Clinicians should consider that few apps were designed to specifically incorporate self-management support and behaviour change potential when recommending apps to clients. Further development in these areas of app design would be of benefit.Implications for RehabilitationSmartphone apps have the potential to improve LBP self-management outcomes, however, apps are not well regulated and the quality of information and advice provided is often low quality.The findings from this systematic assessment indicate that LBP self-management apps have limited self-management support and behaviour change potential features.Recommendation of current smartphone apps for LBP should take into consideration that although apps are of acceptable quality they are not specifically designed with self-management support and behaviour change principles.App quality does not appear to be associated with consumer ratings, however, there may be a positive association between app price and quality which requires further investigation.


Assuntos
Dor Lombar , Aplicativos Móveis , Autogestão , Humanos , Smartphone , Dor Lombar/terapia
8.
J Allergy Clin Immunol Pract ; 10(2): 378-384, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34954122

RESUMO

The management of difficult-to-control asthma remains a significant challenge, which frequently requires the input of the wider multidisciplinary team. This review covers the importance of systematic assessment, phenotyping, treatment options at step 4, an overview of biologics and novel therapies for type 2 (T2) inflammation, and nonpharmacological interventions. Once people have been identified as suffering from difficult-to-control asthma, it is important to use the systematic assessment process to allow accurate diagnosis and optimization of adherence as well as identification and treatment of any relevant comorbidities. Before initiating a biologic, it is important to optimize inhaled therapies and sufficiently phenotype individual patients to allow for the logical use of biologic agents targeting T2 inflammation. For patients who either do not have evidence of T2 inflammation or remain symptomatic despite biologics, attention should be paid to the available nonpharmacological interventions. Difficult-to-treat asthma remains an area of significant unmet need, but improvements in models of service delivery and the ongoing pharmacological pipeline are causes for significant optimism that sooner rather than later there will no longer be asthmatic patients who are difficult to treat.


Assuntos
Antiasmáticos , Asma , Antiasmáticos/uso terapêutico , Asma/tratamento farmacológico , Asma/epidemiologia , Humanos , Fenótipo
9.
Br J Nurs ; 30(22): 1288-1294, 2021 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-34889675

RESUMO

Assessment of symptoms affecting the genitourinary system is in high demand as they can significantly impact on quality of life. Nurses with advanced skills in communication, consultation and specialist knowledge play a key role in improving the experience for patients presenting with genitourinary symptoms.


Assuntos
Qualidade de Vida , Encaminhamento e Consulta , Comunicação , Humanos , Sistema Urogenital
10.
Cancers (Basel) ; 13(24)2021 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-34944859

RESUMO

Drug repurposing is a complementary pathway for introducing new drugs against cancer. Broad systematic assessments of ongoing repurposing efforts in oncology are lacking, but may be helpful to critically appraise current and future efforts. Hence, we conducted a systematic PubMed search encompassing 100 frequently prescribed and 100 randomly selected drugs, and assessed the published preclinical anti-cancer effects. Furthermore, we evaluated all the identified original articles for methodological quality. We found reports indicating anti-cancer effects for 138/200 drugs, especially among frequently prescribed drugs (81/100). Most were reports suggesting single-agent activity of the drugs (61%). Basic information, such as the cell line used or control treatments utilized, were reported consistently, while more detailed information (e.g., excluded data) was mostly missing. The majority (56%) of in vivo studies reported randomizing animals, while only few articles stated that the experiments were conducted in a blinded fashion. In conclusion, we found promising reports of anti-cancer effects for the majority of the assessed drugs, but speculate that many of them are false-positive findings. Reward systems should be adjusted to encourage the widespread usage of high reporting quality and bias-reducing methodologies, aiming to decrease the rate of false-positive results, and thereby increasing the trust in the findings.

11.
Risk Manag Healthc Policy ; 14: 2887-2896, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34267566

RESUMO

OBJECTIVE: To evaluate the effectiveness of a clinical scenario simulation method among nursing students for assessing the risk of patients developing pressure ulcers compared with the traditional didactic method. METHODS: This experimental study was a controlled trial with single-blind assessments. Nursing students (n = 47) were randomly assigned to either a control or an experimental group. The control group (n = 21) was instructed using traditional didactic methods that only delivered knowledge of pressure ulcers, while the experimental group (n = 26) received a clinical scenario simulation-based method for cultivating the competence to assess the risk of pressure ulcers. Participants underwent pre- and post-intervention based on the objective structured clinical examination (OSCE) comprising objective performance criteria. Data were analyzed using a t-test in the SPSS Statistics software program at a significance level of 0.05. RESULTS: No significant differences were observed regarding age or the mean scores of the OSCE in pre-intervention between the two groups. Following the intervention, the mean score of the experimental group's performance was higher (29.04 ± 6.00) compared with the control group (12.38 ± 4.15) (P = 0.000). There were statistical differences between the two groups. Nursing students in the clinical scenario simulation group performed significantly better in recognizing and assessing the risk of pressure ulcers. CONCLUSION: This study demonstrates that a clinical scenario simulation approach is more effective than employing the traditional didactic method for cultivating students' assessment ability regarding pressure ulcers. This student-centered, clinical scenario simulation method can help to effectively develop students' competency in recognizing and assessing the risk of pressure ulcers, thereby providing a solid foundation for their clinical practice towards enhanced patient safety.

12.
Expert Rev Respir Med ; 15(9): 1135-1147, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34030569

RESUMO

Introduction: Chronic rhinitis is defined as nasal inflammation with the presence of minimum two symptoms such as nasal obstruction, rhinorrhea, sneezing and/or itching one hour daily for a minimum of 12 weeks/year. According their etiology, four groups of rhinitis are described: allergic, infectious, non-allergic non-infectious and mixed.Chronic rhinitis is frequently associated with asthma, shares similar mechanisms of the pathogenesis and has a negative impact of its outcomes sustaining the concept of unified airways disease.Areas covered: The present review summarizes the complex relationship between chronic rhinitis and asthma on the basis of recent epidemiological data, clinical characteristics, diagnosis and therapeutic management. All four groups are discussed with the impact of their specific treatment on asthma outcomes. Some medications are common for chronic rhinitis and asthma while others are more specific but able to treat the associated comorbidity.Expert opinion: The systematic assessment of chronic rhinitis in patients with asthma and its specific treatment improves both disease outcomes. Conversely, several therapies of asthma demonstrated beneficial effects on chronic rhinitis. Treating both diseases at the same time by only one medication is an interesting option to explore in the future in order to limit drugs administration, related costs and side effects.


Assuntos
Asma , Rinite , Adulto , Asma/diagnóstico , Asma/tratamento farmacológico , Asma/epidemiologia , Comorbidade , Humanos , Rinite/diagnóstico , Rinite/tratamento farmacológico , Rinite/epidemiologia
13.
Curr Drug Metab ; 21(10): 768-777, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32875983

RESUMO

BACKGROUND: As a metabolic and lifestyle disorder, diabetes mellitus poses a prodigious health risk. Out of the many key targets, DPP-IV is one of the very imperative therapeutic targets for the treatment of diabetic patients. METHODS: In our current study, we have done the in silico simulations of ADME-T properties for naturally originated potent DPP-IV inhibitors like quinovic acid, stigmasterol, quinovic acid-3-beta-D-glycopyranoside, zygophyloside E, and lupeol. Structural topographies associated with different pharmacokinetic properties have been systematically assessed. RESULTS: Glycosylation on quinovic acid is found to be noteworthy for the improvement of pharmacokinetic and toxicological properties, which leads to the prediction that zygophyloside E can be further tailored down to get the lead DPP-IV inhibitor. CONCLUSION: This assessment provides useful insight into the future development of novel drugs for the treatment of diabetes mellitus.


Assuntos
Diabetes Mellitus Tipo 2/tratamento farmacológico , Inibidores da Dipeptidil Peptidase IV/farmacocinética , Inibidores da Dipeptidil Peptidase IV/toxicidade , Modelos Biológicos , Simulação por Computador , Inibidores da Dipeptidil Peptidase IV/química , Desenho de Fármacos , Humanos
14.
BMC Public Health ; 20(1): 835, 2020 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-32493255

RESUMO

BACKGROUND: Hypertension is a leading risk factor for mortality and morbidity globally and in the Arab world. We summarize the evidence on awareness, treatment, and control of hypertension, to assess the extent of gaps in the hypertension continuum of care. We also assess the influence of gender and other social determinants at each level of the cascade of care. METHODS: We searched MEDLINE and SSCI databases for studies published between 2000 and 2017, reporting the rates of awareness, treatment or control of hypertension and/or their determinants in the Arab region. We included sources on both general populations and on clinical populations. The review process was based on the PRISMA guidelines. We present rates on the three stages of the care cascade corresponding to (1) awareness (2) treatment and (3) control of blood pressure, and estimated the losses that occur when moving from one stage to another. We also take stock of the evidence on social determinants and assess the statistical significance of gender differences in awareness, treatment and control. RESULTS: Data from 73 articles were included. Substantial proportions of hypertensives were lost at each step of the hypertension care continuum, with more missed opportunities for care resulting from lack of awareness of hypertension and from uncontrolled blood pressure. More than 40% and 19% of all hypertensive individuals were found to be unaware and to have uncontrolled blood pressure, respectively, but among individuals diagnosed with hypertension, less than 21% were untreated. Awareness rates were higher among women than men but this advantage was not consistently translated into better blood pressure control rates among women. CONCLUSIONS: This analysis of the cascade of care indicates that barriers to proper diagnosis and adequate control are greater than barriers to delivery of treatment, and discusses potential factors that may contribute to the gaps in delivery.


Assuntos
Árabes/estatística & dados numéricos , Continuidade da Assistência ao Paciente/estatística & dados numéricos , Hipertensão/terapia , Fatores Sexuais , Determinantes Sociais da Saúde/estatística & dados numéricos , Adulto , Mundo Árabe , Conscientização , Pressão Sanguínea/fisiologia , Determinação da Pressão Arterial , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Disparidades em Assistência à Saúde , Humanos , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco
15.
J Allergy Clin Immunol Pract ; 8(5): 1616-1624, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31954193

RESUMO

BACKGROUND: Guidelines endorse systematic assessment for severe asthma, with data indicating benefit across multiple outcome domains. OBJECTIVE: We examined which patients respond to systematic assessment and whether oral corticosteroid burden can be decreased independent of monoclonal biologic use. METHODS: Specialist-referred patients are assessed systematically for difficult asthma at our center. We undertook a responder analysis for improvements in the domains of symptom control, quality of life, exacerbations, and airflow obstruction, assessed 6 months after initial assessment. Multivariate analyses were performed for each domain to identify predictors of response. Changes in oral corticosteroid burden were also measured, stratified by monoclonal biologics commenced during assessment. RESULTS: Among 161 patients assessed systematically, 64% had a reduction in exacerbations, 54% achieved minimum clinically important differences for both symptom control and quality of life, and 40% increased their forced expiratory volume in 1 second by ≥100 mL. Altogether, 87% of patients with asthma improved in at least 1 domain. The most consistent predictor of response across domains was poorer baseline asthma status. There was a substantial reduction in mean chronic oral corticosteroid dose (11-5 mg, n = 46, P < .001), even after excluding 7 patients commenced on monoclonal biologics (11-5.6 mg, n = 39, P < .001). CONCLUSIONS: Almost 90% of patients undergoing systematic assessment for difficult asthma improve significantly in at least 1 key asthma outcome, with few reliable predictors of response. The halving of oral corticosteroid burden during systematic assessment is independent of, and comparable in magnitude with, that achieved by monoclonal biologics.


Assuntos
Antiasmáticos , Asma , Produtos Biológicos , Corticosteroides/uso terapêutico , Antiasmáticos/uso terapêutico , Asma/tratamento farmacológico , Produtos Biológicos/uso terapêutico , Humanos , Qualidade de Vida
16.
Logoped Phoniatr Vocol ; 45(1): 39-48, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31407612

RESUMO

Purpose: It is increasingly more common for Speech and Language Pathologists in Sweden to encounter individuals with dysarthria who speak a different language. The aim of the present pilot study was to develop and test a systematic method to be used in collaboration with an interpreter, for assessment of acquired dysarthria in people speaking a language not familiar to the Speech and Language Pathologist.Methods: Seven participants, speaking standard Arabic, were assessed by a Swedish speaking Speech and Language Pathologist using this method and with help of a certified interpreter. The participants were also assessed with equivalent test items from the Swedish "Dysarthria assessment," with instructions translated to Arabic, by a Speech and Language Pathologist speaking standard Arabic and the results were compared.Results: There were no significant differences between the assessments by the Swedish speaking Speech and Language Pathologist and the Arabic speaking Speech and Language Pathologist in the domains "Respiration and phonation," "Articulation," "Listener Comprehension" and "Severity of dysarthria." There was a significant difference between assessments in the domain "Oromotor and velopharyngeal function." Intra- and inter-rater reliability was also calculated using Intraclass Correlation Coefficient and their 95% Confidence Interval. Intra-rater reliability was excellent and inter-rater reliability was very good.Conclusion: The study indicates that a Speech and Language Pathologist, with help of an interpreter, can carry out an assessment of dysarthria in a language unknown to the Speech and Language Pathologist with results comparable to results from an assessment carried out by a Speech and Language Pathologist who speaks the foreign language.


Assuntos
Disartria/diagnóstico , Idioma , Fonação , Testes de Articulação da Fala , Patologia da Fala e Linguagem/métodos , Fala , Adulto , Disartria/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Projetos Piloto , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Inteligibilidade da Fala
17.
Am J Med Genet A ; 182(1): 29-37, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31654484

RESUMO

RATIONALE: Adams-Oliver syndrome (AOS) is a genetic disorder characterized by the association of aplasia cutis congenita (ACC), terminal transverse limb defect (TTLD), congenital cardiac malformation (CCM), and minor features, such as cutaneous, neurological, and hepatic abnormalities (HAs). The aim of the study is to emphasize phenotype-genotype correlations in AOS. METHODS: We studied 29 AOS patients. We recorded retrospectively detailed phenotype data, including clinical examination, biological analyses, and imaging. The molecular analysis was performed through whole exome sequencing (WES). RESULTS: Twenty-nine patients (100%) presented with ACC, the principal inclusion criteria in the study. Seventeen of twenty-one (81%) had cutis marmorata telangiectasia congenita, 16/26 (62%) had TTLD, 14/23 (61%) had CCM, 7/20 (35%) had HAs, and 9/27 (33%) had neurological findings. WES was performed in 25 patients. Fourteen of twenty-five (56%) had alterations in the genes already described in AOS. CCM and HAs are particularly associated with the NOTCH1 genotype. TTLD is present in patients with DOCK6 and EOGT alterations. Neurological findings of variable degree were associated sometimes with DOCK6 and NOTCH1 rarely with EOGT. CONCLUSION: AOS is characterized by a clinical and molecular variability. It appears that degrees of genotype-phenotype correlations exist for patients with identified pathogenic mutations, underlining the need to undertake a systematic but adjusted multidisciplinary assessment.


Assuntos
Displasia Ectodérmica/genética , Predisposição Genética para Doença , Fatores de Troca do Nucleotídeo Guanina/genética , Deformidades Congênitas dos Membros/genética , Receptor Notch1/genética , Dermatoses do Couro Cabeludo/congênito , Síndrome de Bandas Amnióticas/genética , Síndrome de Bandas Amnióticas/patologia , Displasia Ectodérmica/etiologia , Displasia Ectodérmica/patologia , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Deformidades Congênitas dos Membros/etiologia , Deformidades Congênitas dos Membros/patologia , Hepatopatias/genética , Hepatopatias/patologia , Masculino , Mutação/genética , Linhagem , Fenótipo , Dermatoses do Couro Cabeludo/etiologia , Dermatoses do Couro Cabeludo/genética , Dermatoses do Couro Cabeludo/patologia , Deformidades Congênitas das Extremidades Superiores/genética , Deformidades Congênitas das Extremidades Superiores/patologia , Sequenciamento do Exoma
18.
JMIR Mhealth Uhealth ; 7(9): e12604, 2019 09 04.
Artigo em Inglês | MEDLINE | ID: mdl-31486408

RESUMO

BACKGROUND: Numerous free and low-cost mobile apps for the care management of kidney disease have become available in recent years. Although these appear to be promising tools, they have not been evaluated comparatively based on standard mobile app metrics, and thus, limited evidence is available regarding their efficacy. This study systematically cataloged and assessed mobile apps designed to assist medication compliance and nutrition tracking that are useful to the chronic kidney disease (CKD) and the end-stage renal disease (ESRD) patients who are on dialysis. OBJECTIVE: The objective of this study was to comprehensively evaluate mobile apps used for medication compliance and nutrition tracking for possible use by CKD and ESRD patients. METHODS: A systematic review framework was applied to the search, screening, and assessment of apps identified and downloaded from the iOS and Android app stores. We selected apps using 13 relevant search terms, narrowed down based on a set of inclusion and exclusion criteria, and then used the Mobile App Rating Scale (MARS), a widely adopted app evaluation tool to assess the effectiveness of apps. The internal consistency and interrater reliability were tested using Cronbach alpha and interclass correlation coefficients (ICCs), respectively. RESULTS: The MARS total score had excellent internal consistency (Cronbach alpha=.90) and a moderate level of interrater reliability (2-way mixed ICC 0.65). Overall, 11 out of the 12 reviewed apps met the minimum acceptable score of 3.0 in MARS rating. The 3 apps with the highest combined scores were My Kidneys, My Health Handbook (MARS=4.68); My Food Coach (MARS=4.48); and National Kidney Foundation Malaysia (MARS=4.20). The study identified 2 general weaknesses in the existing apps: the apps fell short of accommodating advanced interactive features such as providing motivational feedback and promoting family member and caregiver participations in the app utilization. CONCLUSIONS: The MARS rating system performed well in the app evaluation. The 3 highest ranked apps scored consistently high across the 5 dimensions specified in MARS. These apps were developed in collaboration with reputable organizations and field experts, demonstrating the importance of expert guidance in developing medical apps.


Assuntos
Falência Renal Crônica/terapia , Aplicativos Móveis/estatística & dados numéricos , Insuficiência Renal Crônica/terapia , Humanos , Serviços de Informação/estatística & dados numéricos , Falência Renal Crônica/psicologia , Aplicativos Móveis/tendências , Insuficiência Renal Crônica/psicologia
19.
J Allergy Clin Immunol Pract ; 7(5): 1440-1449, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30954467

RESUMO

Severe asthma is complex and heterogeneous; ad hoc outpatient assessment can be suboptimal. Systematic evaluation improves outcomes and is recommended by international guidelines. Electronic templates improve physician performance and clinical processes, and may be useful in severe asthma systematic evaluation. We developed the Severe Asthma Global Evaluation (SAGE) electronic platform to streamline this process, via Research Electronic Data Capture (REDCap). It incorporates: a questionnaire battery for patient completion before clinical consultation; asthma and comorbidity modules; a clinical summary page in an asthma management module; a nurse educator module; a structured panel discussion record; and an automatically generated report incorporating all key data. SAGE incorporates 282 clinician input fields, with a typical consultation requiring completion of 169. To streamline the process SAGE contains 34 autocalculations and 20 decision support tools. It incorporates all 95 core variables of the International Severe Asthma Registry, with which it is directly compatible. SAGE improves symptom control and exacerbations in patients with difficult asthma. In conclusion, we developed and validated an electronic platform that facilitates a comprehensive but streamlined systematic evaluation of severe asthma that is available for free download via REDCap. Its use enhances management of patients with severe asthma and facilitates audit and international research collaboration.


Assuntos
Asma/terapia , Pesquisa Biomédica , Auditoria Clínica , Sistemas de Apoio a Decisões Clínicas , Registros Eletrônicos de Saúde , Austrália , Gerenciamento Clínico , Humanos , Índice de Gravidade de Doença , Inquéritos e Questionários
20.
Support Care Cancer ; 27(7): 2715-2724, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30498993

RESUMO

PURPOSE: Systematic assessment of QOL and care needs was applied in two gastroenterology departments to support "Cancer Care for the Whole Patient." METHODS: Patients with digestive cancer were asked to complete the Cancer Rehabilitation Evaluation System-Short Form (CARES-SF) at the start of treatment and 3 months later. Both times CARES data were processed, and summary reports on the retained insights were sent to the reference nurse for use in further follow-up of the patient. Patients' and reference nurse's experiences with the systematic CARES-assessment were explored with several survey questions and semi-structured interviews, respectively. RESULTS: The mean age of the 51 participants was 63 years (SD11.17), 52.9% was male. With the CARES-SF, a large variety of problems and care needs was detected. Problems most frequently experienced, and most burdensome for QOL are a mix of physical complaints, side effects from treatment, practical, relational, and psychosocial difficulties. Only for a limited number of experienced problems a desire for extra help was expressed. All patients positively evaluate the timing and frequency of the CARES-assessment. The majority believes that this assessment could contribute to the discussion of problems and needs with healthcare professionals, to get more tailored care. Reference nurses experienced the intervention as an opportunity to systematically explore patients' well-being in a comprehensive way, leading to detection and discussion of specific problems or needs in greater depth, and more efficient involvement of different disciplines in care. CONCLUSIONS: Systematic QOL and needs assessment with the CARES-SF in oncology can contribute to more patient-centeredness and efficiency of care.


Assuntos
Neoplasias do Sistema Digestório/terapia , Adulto , Idoso , Neoplasias do Sistema Digestório/psicologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação das Necessidades , Qualidade de Vida/psicologia , Inquéritos e Questionários
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