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1.
BMC Public Health ; 19(1): 1446, 2019 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-31684916

RESUMO

BACKGROUND: Standardized, research-based strategies to guide the implementation and evaluate the effects of housing adaptations (HA) on client outcomes are rare. We hypothesized that, compared to ordinary practice, a standardized assessment and evaluation protocol for HA implementation would better maintain or improve client outcomes over 1 year. METHOD: Using a cluster design, South Swedish municipalities were recruited to an intervention or control group. Data on activities of daily living, usability of the home, health related quality of life, and participation frequency and satisfaction were collected at home visits 1 month before the HA (baseline; T1), and at 3 (T2), 6 (T3) and 12 (T4) months after. In the intervention group (n = 112) data were collected according to a standardized protocol while in the control group (n = 129) ordinary routines were applied. Changes from baseline to subsequent time points were categorized as no deterioration (i.e. improvement or no change) or deterioration, for each outcome item separately. Differences in "no deterioration" between the groups were assessed using logistic regression. RESULTS: Little effect of using the standardized protocol was detected. For activities of daily living, statistically significant differences between the groups were found for toileting (T1-T4; OR 3.14), dressing (T1-T4; OR2.89) and cooking (T1-T3 and T1-T4; OR 3.14). For usability of the home differences were found in personal hygiene (T1-T2; OR 2.32) using a wheelchair (T1-T2 and T1-T3; OR 9.50), picking up the mail (T1-T3; OR 4.06), and in participation, helping others (T1-T3 and T1-T4; OR 2.33 and 3.36). CONCLUSION: The applied standardized protocol for HA implementation did not show any convincing effect, possibly due to the complexity of the intervention itself, and the implementation process. A process evaluation might generate in-depth knowledge about the reasons behind the findings. TRIAL REGISTRATION: ClinicalTrials.gov . NCT01960582.


Assuntos
Acessibilidade Arquitetônica , Habitação , Projetos de Pesquisa/normas , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Cidades , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação Pessoal , Qualidade de Vida , Suécia
2.
Pharmacogenomics J ; 16(3): 272-9, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26261061

RESUMO

The objective of the study was to investigate whether specific single nucleotide polymorphisms (SNPs) with influence on drug transport, biotransformation and repair mechanisms are associated with treatment outcome and toxicity in metastatic colorectal cancer (mCRC). We genotyped blood samples from 519 mCRC patients treated with first-line 5-fluorouracil and oxaliplatin +/- cetuximab for 17 SNPs in 10 genes involved in membrane transport (ABCC1 and ABCC2), drug biotransformation (GSTP1 and AGXT) and DNA repair (ERCC1, ERCC2, XRCC1, XRCC3, XPG and MSH6). The AGXT-rs34116584 and the ERCC2-rs238406 polymorphisms were significantly associated with progression-free survival (P=0.002 and P=0.001, respectively). Associations between 18 toxicity variables and SNPs were identified, although none were significant after Bonferroni correction for multiple comparisons. The study identified SNPs of potential use as markers of clinical outcome in oxaliplatin-treated mCRC patients. If validated in other studies, they could improve the selection of therapy in mCRC.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores Tumorais/genética , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/genética , Fluoruracila/uso terapêutico , Compostos Organoplatínicos/uso terapêutico , Variantes Farmacogenômicos/genética , Polimorfismo de Nucleotídeo Único , Transaminases/genética , Proteína Grupo D do Xeroderma Pigmentoso/genética , Adulto , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Ensaios Clínicos Fase III como Assunto , Neoplasias Colorretais/mortalidade , Neoplasias Colorretais/patologia , Intervalo Livre de Doença , Feminino , Fluoruracila/efeitos adversos , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 2 Associada à Farmacorresistência Múltipla , Metástase Neoplásica , Compostos Organoplatínicos/efeitos adversos , Oxaliplatina , Fenótipo , Ensaios Clínicos Controlados Aleatórios como Assunto , Estudos Retrospectivos , Fatores de Risco , Países Escandinavos e Nórdicos , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
3.
Acta Neurol Scand ; 133(2): 103-110, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25955112

RESUMO

OBJECTIVES: Studies suggest that fatigue and cognitive impairment may be present after transient ischemic attack (TIA), but little is known about consequences in daily life. The main aim was to longitudinally explore the presence of fatigue, cognitive impairment, and consequences in daily life including communication after clinically diagnosed TIA at 1 and 9 months after the event. MATERIAL AND METHODS: A consecutive sample of 46 patients (23 women, 69 ± 12.3 years) was assessed at discharge from hospital and at 1 and 9 months after TIA regarding cognition, mental fatigue, tiredness, and activities of daily life. This served as basis for an interview concerning experienced changes related to the TIA. RESULTS: Problems in daily life with probable association with the TIA were experienced by 37% (n = 45) of participants 9 months after the TIA event. Cognitive impairment was present in 40% (n = 44) after 1 month and 30% (n = 23) after 9 months. Mental fatigue was experienced by 26% (n = 42) after 1 month and 17% (n = 39) after 9 months. Communication problems were reported and increased from 7 to 14 participants between the two time points. CONCLUSIONS: A third of the TIA patients experienced problems in performance of complex activities in daily life and often communication problems within the first 9 months. Cognitive impairment and mental fatigue could be factors influencing performance in daily life and at work, but this needs to be verified in a larger sample. The risk of activity limitations indicates need for multiprofessional support and systematic routines for TIA follow-up.

4.
Palliat Support Care ; 14(3): 212-24, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26235481

RESUMO

OBJECTIVES: In clinical palliative cancer care, the diversity of patient concerns over time makes information provision a critical issue, the demands of information-seeking patients presenting a challenge to both the communicative and organizational skills of the health provider. This study puts forward a practice model for communication between patients, their family members, and professional health providers during ongoing palliative chemotherapy; a model which supports the providers in enabling person-centered communication. METHOD: A constant comparative analysis adapted to participatory action research was applied. The model was developed step-wise in three interrelated cycles, with results from previous studies from palliative cancer care processed in relation to professional health providers' experience-based clinical knowledge. In doing this, focus group discussions were carried out with providers and patients to develop and revise the model. RESULTS: The Enabling Sense Making model for person-centered communication gave rise to three domains (which are also the major communicative actors in palliative care): the patient, the family, and the provider. These actors were placed in the context of a communicative arena. The three respective domains were built up in different layers discriminating between significant aspects of person-centered communication, from the manifest that is most usually explicated in dialogues, to the latent that tends to be implicitly mediated. SIGNIFICANCE OF RESULTS: The model intends to facilitate timely reorientation of care from curative treatment or rehabilitation to palliation, as well as the introduction of appropriate palliative interventions over time during palliative phases. In this way the model is to be regarded a frame for directing the awareness of the professionals, which focuses on how to communicate and how to consider the patient's way of reasoning. The model could be used as a complement to other strategic initiatives for the advancement of palliative care communication. It needs to be further evaluated in regard to practice evidence.


Assuntos
Estado Terminal/psicologia , Cuidados Paliativos/psicologia , Assistência Centrada no Paciente/métodos , Relações Profissional-Paciente , Assistência Ambulatorial/métodos , Assistência Ambulatorial/psicologia , Comunicação , Família/psicologia , Humanos , Neoplasias/complicações , Neoplasias/psicologia , Pacientes Ambulatoriais/psicologia , Cuidados Paliativos/métodos , Cuidados Paliativos/normas , Pesquisa Qualitativa
5.
J Oral Rehabil ; 42(9): 693-700, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25882481

RESUMO

The objective was to compare two cohorts of elderly people, 70 and 80 years old, with respect to dental status and self-assessed chewing ability. The hypotheses were as follows: (i) dental status is associated with self-assessed chewing ability; (ii) chewing ability is poorer among the 80- than the 70-year-old subjects. Identical questionnaires were in 2012 sent to all subjects born in 1942 and 1932, living in two Swedish counties. The response rate was 70.1% resulting in samples of 5697 70- and 2922 80-year-old subjects. Answers to questions on self-assessed chewing ability, dental status and some other factors have been analysed. Dental status varied but was in general good; 72% of the 70- and 60% of the 80-year-old subjects reported that they had all or only few missing teeth. Rate of edentulism was 3% and 7%, respectively. Removable partial dentures were reported by 6% and 10%, respectively, implant treatment by 13% in both cohorts. Self-assessed chewing ability was mostly good and correlated with the number of teeth (Spearman rho = 0.46). A majority of the edentulous subjects assessed their chewing ability as very or fairly good. Logistic regression showed that self-assessed chewing ability was significantly associated with a number of dental variables but also with general health. In conclusion, dental status was relatively good at both ages but somewhat poorer in the older cohort. Dental status, some other dental variables and being healthy were in both age groups significantly associated with self-assessed chewing ability.


Assuntos
Prótese Dentária Fixada por Implante/estatística & dados numéricos , Prótese Total/estatística & dados numéricos , Prótese Parcial Fixa/estatística & dados numéricos , Prótese Parcial Removível/estatística & dados numéricos , Mastigação , Boca Edêntula/fisiopatologia , Saúde Bucal/estatística & dados numéricos , Idoso , Feminino , Nível de Saúde , Humanos , Modelos Logísticos , Masculino , Autorrelato , Suécia/epidemiologia
6.
J Toxicol Environ Health A ; 77(9-11): 600-15, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24754395

RESUMO

Produced water is the largest effluent discharge from oil and gas/condensate production facilities in the North Sea. There is concern that contaminants originating from the reservoir and chemicals used in the production process may affect marine organisms. Developmental toxicity of extractable organic compounds in produced water effluents from oil and gas/condensate production platforms in the Norwegian sector of the North Sea was assessed in a temporal and spatial manner using zebrafish (Danio rerio) embryos. Large-scale solid-phase extraction (SPE) and on-column fractionation of water-soluble fraction (WSF) and an oil/particulate fraction was used in a rapid screening bioassay for embryotoxicity. Exposure to produced water extracts increased rate of mortality and reduced pigmentation and heart rate, as well as delaying time to hatch. The oil/particulate fraction was 10-fold less toxic than WSF, indicating that toxicity was predominantly produced by moderately polar and bioavailable compounds. Large spatial and temporal variation in produced water toxicity was observed, displaying considerable variability in the reservoir, oil well, and effluent composition over time. The noted toxicity did not correlate well with either reported produced water composition or parameters such as total hydrocarbons, thus challenging chemical measurements as a reliable source of information for predicting complex effects. Although embryotoxicity was observed following exposure to the extracts, dilution and transformation of produced water in the recipient are expected to rapidly reduce the concentrations of compounds in the effluents to levels below the thresholds of observed effects.


Assuntos
Monitoramento Ambiental/métodos , Resíduos Industriais/análise , Petróleo/toxicidade , Testes de Toxicidade/métodos , Poluentes Químicos da Água/toxicidade , Animais , Nível de Efeito Adverso não Observado , Mar do Norte , Extração em Fase Sólida , Peixe-Zebra/embriologia
7.
PLoS Comput Biol ; 8(8): e1002581, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22912564

RESUMO

An animal's ability to navigate through space rests on its ability to create a mental map of its environment. The hippocampus is the brain region centrally responsible for such maps, and it has been assumed to encode geometric information (distances, angles). Given, however, that hippocampal output consists of patterns of spiking across many neurons, and downstream regions must be able to translate those patterns into accurate information about an animal's spatial environment, we hypothesized that 1) the temporal pattern of neuronal firing, particularly co-firing, is key to decoding spatial information, and 2) since co-firing implies spatial overlap of place fields, a map encoded by co-firing will be based on connectivity and adjacency, i.e., it will be a topological map. Here we test this topological hypothesis with a simple model of hippocampal activity, varying three parameters (firing rate, place field size, and number of neurons) in computer simulations of rat trajectories in three topologically and geometrically distinct test environments. Using a computational algorithm based on recently developed tools from Persistent Homology theory in the field of algebraic topology, we find that the patterns of neuronal co-firing can, in fact, convey topological information about the environment in a biologically realistic length of time. Furthermore, our simulations reveal a "learning region" that highlights the interplay between the parameters in combining to produce hippocampal states that are more or less adept at map formation. For example, within the learning region a lower number of neurons firing can be compensated by adjustments in firing rate or place field size, but beyond a certain point map formation begins to fail. We propose that this learning region provides a coherent theoretical lens through which to view conditions that impair spatial learning by altering place cell firing rates or spatial specificity.


Assuntos
Hipocampo/anatomia & histologia , Potenciais de Ação , Animais , Hipocampo/fisiologia , Modelos Teóricos , Ratos
8.
J Oral Rehabil ; 39(11): 858-77, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22831275

RESUMO

Masticatory function is an important aspect of oral health, and oral rehabilitation should aim to maintain or restore adequate function. The present qualitative review is the joint effort of a group of clinicians and researchers with experiences ranging from basic and clinical oral neuroscience to management of patients with dental implants. The aim is to provide a short summary for the clinician of the many aspects related to masticatory function (including quality of life) and rehabilitation with dental implants. While there are many reviews on the tissue responses to dental implants and technical aspects, the functional aspects have received relatively little focus.


Assuntos
Encéfalo/fisiologia , Implantes Dentários , Mastigação/fisiologia , Força de Mordida , Retroalimentação Sensorial/fisiologia , Humanos , Córtex Motor/fisiologia , Plasticidade Neuronal/fisiologia , Saúde Bucal , Qualidade de Vida , Córtex Somatossensorial/fisiologia
9.
Disabil Health J ; 15(2): 101227, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34716114

RESUMO

BACKGROUND: The built environment needs to be designed so that all people can participate in the activities they want and need to do. Yet, accessibility is difficult to put into practice, and accessibility issues tend to be overlooked in the building and planning processes. OBJECTIVES: The aim of this scoping review was to summarize the research front in the area of accessibility to public buildings. Specific aims were to identify knowledge gaps, to identify access activities in relation to environmental features and to link to predominant activities in terms of the International Classification of Functioning, Disability and Health (ICF). METHODS: A literature search was performed in PubMed, PsycINFO, Inspec, Embase and Cochrane databases. Articles in English based on original empirical studies investigating accessibility of public buildings for adults aged ≥18 years with functional limitations were considered. RESULTS: Of the 40 articles included, ten involved study participants, while 30 only examined buildings using instruments to assess accessibility. In addition, the psychometric properties were only tested for a few of them. All articles concerned mobility and several visual limitations, while few addressed cognitive or hearing limitations. Ten main access activities were identified, from using parking/drop-off area to exiting building. CONCLUSIONS: By using the ICF and theoretically relating the accessibility problems to activities, the results revealed that there are large knowledge gaps about accessibility to public buildings for older people and people with functional limitations and that there is a need for more methodological considerations in this area of research.


Assuntos
Pessoas com Deficiência , Adolescente , Adulto , Idoso , Humanos
10.
ESMO Open ; 7(5): 100589, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36183444

RESUMO

BACKGROUND: 5-fluorouracil (5-FU) combined with a folate remains an essential treatment component for metastatic colorectal cancer (mCRC). Leucovorin is the folate most often used, but requires intracellular conversion to a reduced folate, and has high pharmacokinetic variability and limited bioavailability in patients with low folate pathway gene expression. Arfolitixorin is an immediately active form of folate, [6R]-5,10-methylenetetrahydrofolate ([6R]-MTHF), and may improve outcomes. PATIENTS AND METHODS: This open-label, multicenter, phase I/II study in patients with mCRC (NCT02244632) assessed the tolerability and efficacy of first- or second-line arfolitixorin (30, 60, 120, or 240 mg/m2 intravenous) with 5-FU alone, or in combination with oxaliplatin (plus or minus bevacizumab) or irinotecan, every 14 days. Safety, efficacy, and pharmacokinetics were assessed before and after four cycles (8 weeks) of treatment. RESULTS: In 105 treated patients, investigators reported 583 adverse events (AEs) in 86 patients (81.9%), and 256 AEs (43.9%) were potentially related to arfolitixorin and 5-FU. Dose adjustments were required in 16 patients (15.2%). At 8 weeks, 9 out of 57 patients assessed for efficacy achieved an objective response (15.8%), and all 9 achieved a partial response. Six of these nine patients had received arfolitixorin as a first-line treatment. A further 33 patients (57.9%) achieved stable disease. Pharmacokinetics were assessed in 35 patients. The average tmax was 10 min, and area under the plasma concentration-time curve from time 0 to 1 h increased linearly between 30 and 240 mg/m2. No accumulation was observed for [6R]-MTHF following repeated administration, and there were no major pharmacokinetic differences between cycle 1 and cycle 4 at any dose. CONCLUSIONS: Arfolitixorin is a well-tolerated moderator of 5-FU activity. It is suitable for further investigation in mCRC and has the potential to improve treatment outcomes in patients with low folate pathway gene expression. Arfolitixorin can easily be incorporated into current standard of care, requiring minimal changes to chemotherapy regimens.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias Colorretais , Humanos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Bevacizumab/uso terapêutico , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/patologia , Fluoruracila/uso terapêutico , Irinotecano/uso terapêutico , Leucovorina/uso terapêutico , Oxaliplatina/uso terapêutico
11.
Pediatr Blood Cancer ; 56(3): 444-51, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21072829

RESUMO

BACKGROUND: Severe congenital neutropenia (SCN) is an immunodeficiency characterized by disturbed myelopoiesis and an absolute neutrophil count (ANC) <0.5 × 10(9)/L. SCN is also a premalignant condition; a significant proportion of patients develop myelodysplastic syndrome or leukemia (MDS/L). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for SCN. PROCEDURE: Since 2004, eight HSCT have been performed in seven patients at our center. The indications were transformation to MDS/L (n = 2), granulocyte colony-stimulating factor receptor (CSF3R) mutation(s) (n = 2), granulocyte colony-stimulating factor (G-CSF) resistance (n = 2), and at the patient's own request (n = 1). RESULTS: The mean age at transplantation was 13 years (2.8-28 years) (mean follow-up 32 months, range 21-60). Three patients harbored ELANE mutations, three HAX1 mutations, and in one patient no causative mutation was identified. Two of the ELANE mutations were novel mutations. Three patients initially received myeloablative conditioning and four had reduced intensity conditioning (RIC). Three grafts were from HLA-identical siblings, three from matched unrelated donors and two were cord blood units. Engraftment occurred in all patients. Two of seven (29%) patients died; both had MDS/L and both were among the three that underwent myeloablative conditioning. One patient has chronic GVHD 2 years post-transplant. CONCLUSIONS: The role of HSCT should be explored further in patients with SCN. In particular, the influence of the conditioning regime needs to be evaluated in a larger cohort of patients.


Assuntos
Doença Enxerto-Hospedeiro/prevenção & controle , Transplante de Células-Tronco Hematopoéticas , Condicionamento Pré-Transplante , Adolescente , Adulto , Criança , Pré-Escolar , Síndrome Congênita de Insuficiência da Medula Óssea , Feminino , Humanos , Leucemia/etiologia , Leucemia/terapia , Masculino , Síndromes Mielodisplásicas/etiologia , Síndromes Mielodisplásicas/terapia , Neutropenia/congênito , Neutropenia/terapia , Taxa de Sobrevida , Resultado do Tratamento , Adulto Jovem
12.
Brain Cogn ; 76(2): 310-5, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21492981

RESUMO

Dichotic listening test (DL) is an important tool to disclose speech dominance in healthy subjects and in clinical cases. The aim of this study was to probe if focal epilepsy in children reveals a corresponding suppression of the ear reports contralateral to seizure onset site. Thus, 15 children and adolescents with clinically and electroencephalographically diagnosed focal epilepsy selected for left-hemisphere speech dominance without mental retardation were compared to matched controls according to age, gender, IQ and handedness. All children were assessed with DL for three times: Interictally (t(0)), postictally 5' (t(1)) and 1h (t(2)). At t(0), all groups revealed a right ear advantage (REA), indicating a left-hemisphere speech dominance. There was a continuous increase in right correct score (REC) over the trials for normal controls. Five minutes postictally, there was an abrupt decrease in REC with a sustained left ear correct score (LEC) for children with epilepsy, independent of which side suffered from seizures. This effect was maintained even after 1h. Thus, in children with left-hemisphere speech dominance the epileptic discharges caused a suppression of REC regardless of origin. The seizures may have a prolonged impact on attention and auditory perception for a considerable time after consciousness has been regained.


Assuntos
Percepção Auditiva/fisiologia , Epilepsias Parciais/fisiopatologia , Lateralidade Funcional/fisiologia , Convulsões/fisiopatologia , Adolescente , Atenção/fisiologia , Criança , Testes com Listas de Dissílabos , Eletroencefalografia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Proibitinas
13.
J Oral Rehabil ; 37(2): 143-56, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20002536

RESUMO

Based on available investigations and current trends in oral rehabilitation published in the dental literature, an attempt is made to describe the possible future role of complete dentures. For edentulous patients, complete dentures have for long been the only prosthodontic treatment option. Whereas a large number of edentulous patients report satisfaction with denture usage, a smaller number are unable to adapt; for such patients, sophistication of clinical and technical processes or quality of denture-supporting tissues, appear to have little influence on patient-perceived outcomes. Since the 1980s, osseointegrated dental implants have dramatically improved the therapeutic possibilities, especially so for maladaptive patients. Those able to access such treatment can expect significant improvements in oral functional status and quality of life. While there is a downward trend in edentulism in several countries, it is region-specific, confirming the overriding influence of socio-economic factors on health status. In most societies, despite ageing populations, the need for complete dentures is not likely to reduce in the near future. Whereas a two- or even a one-implant overdenture for the edentulous mandible is increasingly regarded as a minimum standard of care in many developed countries, its routine prescription for the majority in the world who are disadvantaged is unrealistic; for them, even 'low-tech' therapies like conventional dentures are beyond their reach. Improving the conventional management of edentulous patients is a necessity and requires a keener focus by researchers, educators and clinicians in the developed world on the needs of populations with fewer resources.


Assuntos
Prótese Total/tendências , Boca Edêntula/reabilitação , Implantes Dentários , Prótese Dentária Fixada por Implante , Previsões , Humanos , Satisfação do Paciente , Qualidade de Vida , Fatores Socioeconômicos
14.
J Intern Med ; 264(4): 388-400, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18513342

RESUMO

OBJECTIVES: Homozygous mutations in the HAX1 gene were recently identified in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. Our observations suggested that these patients also develop neurological and neuropsychological symptoms. METHODS: Detailed clinical studies and mutation analyses were performed in the surviving patients belonging to the Kostmann kindred and in two patients not related to this family, along with studies of HAX1 splice variant expression in normal human tissues. RESULTS: Five of six Kostmann family patients and one other patient from northern Sweden harboured homozygous HAX1 mutations (568C-->T, Q190X) and one carried a heterozygous ELA2 gene mutation. One Swedish patient of Kurdish extraction carried alternative homozygous HAX1 mutations (131G-->A, W44X). All the three patients with Q190X mutations who were alive and available for evaluation developed neurological disease with decreased cognitive function, and three of four patients who reached 10 years developed epilepsy. In contrast, the patients with the ELA2 and W44X HAX1 mutations, respectively, showed no obvious neurological abnormalities. Moreover, two alternative HAX1 splice variants were identified in normal human tissues, including the brain. Both transcripts contained exon 5, harbouring the Q190X mutation, whereas the 5' end of exon 2 containing the W44X mutation was spliced out from the second transcript. CONCLUSIONS: We describe neurological and neuropsychological abnormalities for the first time in Kostmann disease patients. These central nervous system symptoms appear to be associated with specific HAX1 mutations.


Assuntos
Doenças do Sistema Nervoso Central/diagnóstico , Neutropenia/congênito , Proteínas/genética , Proteínas Adaptadoras de Transdução de Sinal , Adolescente , Adulto , Doenças do Sistema Nervoso Central/genética , Doenças do Sistema Nervoso Central/imunologia , Análise Mutacional de DNA , Feminino , Homozigoto , Humanos , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Neutropenia/genética , Linhagem , Mutação Puntual , Isoformas de Proteínas , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Suécia
15.
J Oral Rehabil ; 35(7): 548-66, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18557919

RESUMO

The purpose of this review was to evaluate the literature on the rehabilitation of tooth wear, with some pertinent historical, epidemiological and aetiological aspects of tooth wear provided as background information. In historical skull material, extensive tooth wear, assumed to be the result of coarser diets, was found even in relatively young individuals. Such wear is seldom seen in current populations. Although many of the factors associated with extensive tooth wear in historical material are no longer present or prevalent, new risk factors have emerged. In the young individual, the literature points to a global rise in soft drink consumption as the most significant factor in the development of tooth wear through dental erosion. Among older individuals, lifestyle changes and chronic diseases that are controlled with medications that may, in turn, result in regurgitation and/or dry mouth, are possible reasons amongst others for the widespread clinical impression of an increasing prevalence of tooth wear. The aetiology of tooth wear is multifactorial and the role of bruxism is not known. Clinical controlled trials of restorative and prosthodontic approaches for the range of clinical conditions that wear can give rise to, are limited in number and quality. Equally, the striking lack of evidence regarding the long-term outcomes of treatment methods and materials calls for caution in clinical decision-making. Notwithstanding these observations, clinicians have provided and continue to provide rehabilitative strategies for managing their patients' worn dentitions that range traditionally from extensive prosthodontics to an increasing reliance on adhesive techniques.


Assuntos
Bruxismo/complicações , Restauração Dentária Permanente/métodos , Prostodontia/métodos , Abrasão Dentária/terapia , Atrito Dentário/terapia , Feminino , Humanos , Masculino , Abrasão Dentária/etiologia , Atrito Dentário/etiologia
16.
J Oral Rehabil ; 35 Suppl 1: 2-8, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18181929

RESUMO

In August 23-25, 2007, the Scandinavian Society for Prosthetic Dentistry in collaboration with the Danish Society of Oral Implantology arranged a consensus conference on the topic 'Implants and/or teeth'. It was preceded by a workshop in which eight focused questions were raised and answered in eight review articles using a systematic approach. Twenty-eight academicians and clinicians discussed the eight review papers with the purpose to reach consensus on questions relevant for the topic. At the conference the consensus statements were presented as well as lectures based on the review articles. In this article the methods used at the consensus workshop are briefly described followed by the statements with comments.


Assuntos
Implantes Dentários , Odontologia/métodos , Doenças Dentárias/cirurgia , Odontologia/normas , Humanos , Guias de Prática Clínica como Assunto , Países Escandinavos e Nórdicos
17.
Eur J Surg Oncol ; 33(7): 849-53, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17379473

RESUMO

AIM: The aim of the study was to evaluate the clinical impact of improved cooperation between the treating surgeons and pathologists in a high volume surgical unit. As a measure we used the staging process with special focus on lymph node assessment. FINDINGS: Comparing two periods 5 years apart, we found a significant increase in the number of nodes examined and also an increase in the number of metastasis-positive nodes. Concurrently, we observed a trend in stage migration from stage I/II towards stage III, whilst stage IV remained unchanged. This was one factor that contributed to an increase in the number of patients treated with adjuvant chemotherapy. We also found that the number of assessed nodes had an impact on survival in stage II. The major change in practise was the implementation of a multidisciplinary team conference and the associated possibility of reciprocal feedback. CONCLUSION: Lymph node status has a key role in cancer staging and in the selection of further therapy. The quality and the standard of the assessment can be improved through multidisciplinary cooperation and it has an impact on the clinical decisions and can affect long-term survival. A correct node status should be mandatory in the evaluation of prognostic factors.


Assuntos
Neoplasias Colorretais/patologia , Linfonodos/patologia , Avaliação de Resultados em Cuidados de Saúde , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais/mortalidade , Neoplasias Colorretais/cirurgia , Progressão da Doença , Feminino , Seguimentos , Humanos , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Suécia/epidemiologia , Fatores de Tempo
18.
Phys Med Biol ; 52(4): 1157-70, 2007 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-17264377

RESUMO

The Monte Carlo method was used to study the dependence of the calibration coefficient on the tube voltage, beam aperture and reference plane in simplified over-couch geometries modelling VacuTec's type 70157 KAP-meter both with and without an additional filter. The MCNP5 code was used to calculate (i) energy imparted to air cavities of the KAP-meter and (ii) spatial distribution of air collision kerma at entrance and exit planes of the KAP-meter and at a plane close to the patient. From these data, the air kerma area product and calibration coefficient were calculated and their dependence on the tube voltage and beam aperture was analysed. It was found that the variation of the calibration coefficient as a function of tube voltage was up to 40% when the additional filter was used. The additional filter placed closely in front of the KAP-meter decreased the calibration coefficient for the patient plane by about 10% compared to the ideal additional filter. The effect of the beam aperture was small at the patient plane and negligible for the exit plane.


Assuntos
Método de Monte Carlo , Monitoramento de Radiação , Radiografia/métodos , Radiometria/métodos , Ecrans Intensificadores para Raios X , Calibragem , Filtração , Humanos , Modelos Teóricos , Doses de Radiação , Radiografia/instrumentação , Radiometria/instrumentação , Fatores de Risco
19.
Phys Med Biol ; 52(16): 4953-66, 2007 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-17671346

RESUMO

Nanodosimetric single-event distributions or their mean values may contribute to a better understanding of how radiation induced biological damages are produced. They may also provide means for radiation quality characterization in therapy beams. Experimental nanodosimetry is however technically challenging and Monte Carlo simulations are valuable as a complementary tool for such investigations. The dose-mean lineal energy was determined in a therapeutic p(65)+Be neutron beam and in a (60)Co gamma beam using low-pressure gas detectors and the variance-covariance method. The neutron beam was simulated using the condensed history Monte Carlo codes MCNPX and SHIELD-HIT. The dose-mean lineal energy was calculated using the simulated dose and fluence spectra together with published data from track-structure simulations. A comparison between simulated and measured results revealed some systematic differences and different dependencies on the simulated object size. The results show that both experimental and theoretical approaches are needed for an accurate dosimetry in the nanometer region. In line with previously reported results, the dose-mean lineal energy determined at 10 nm was shown to be related to clinical RBE values in the neutron beam and in a simulated 175 MeV proton beam as well.


Assuntos
Modelos Biológicos , Método de Monte Carlo , Nanotecnologia/métodos , Terapia por Captura de Nêutron/métodos , Radiometria/métodos , Simulação por Computador , Modelos Estatísticos , Dosagem Radioterapêutica , Análise de Regressão , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
20.
Radiat Prot Dosimetry ; 126(1-4): 463-6, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17704506

RESUMO

A comparison of calculated and measured values of the dose mean lineal energy (y(D)) for the former neutron therapy beam at Louvain-la-Neuve is reported. The measurements were made with wall-less tissue-equivalent proportional counters using the variance-covariance method and simulating spheres with diameters between 10 nm and 15 microm. The calculated y(D)-values were obtained from simulated energy distributions of neutrons and charged particles inside an A-150 phantom and from published y(D)-values for mono-energetic ions. The energy distributions of charged particles up to oxygen were determined with the SHIELD-HIT code using an MCNPX simulated neutron spectrum as an input. The mono-energetic ion y(D)-values in the range 3-100 nm were taken from track-structure simulations in water vapour done with PITS/KURBUC. The large influence on the dose mean lineal energy from the light ion (A > 4) absorbed dose fraction, may explain an observed difference between experiment and calculation. The latter being larger than earlier reported result. Below 50 nm, the experimental values increase while the calculated decrease.


Assuntos
Modelos Biológicos , Nanotecnologia/métodos , Nêutrons/uso terapêutico , Radiometria/métodos , Planejamento da Radioterapia Assistida por Computador/métodos , Eficiência Biológica Relativa , Animais , Simulação por Computador , Humanos , Dosagem Radioterapêutica
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