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1.
Kennedy J Jackson G Ramsden S Taylor J Newman W Wright MJ Donnai D Elles R Briggs MD 《European journal of human genetics : EJHG》2005,13(5):547-555
The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which result in varying degrees of short stature, joint pain and stiffness and often resulting in early onset osteoarthritis. PSACH and some forms of MED result from mutations in the cartilage oligomeric matrix protein (COMP) gene and to aid the clinical diagnosis and counselling of patients with a suspected diagnosis of PSACH or MED, we developed an efficient and accurate molecular diagnostic service for the COMP gene. In a 36-month period, 100 families were screened for a mutation in COMP and we identified disease-causing mutations in 78% of PSACH families and 36% of MED families. Furthermore, in several of these families, the identification of a disease-causing mutation provided information that was immediately used to direct reproductive decision-making. 相似文献
2.
Kennedy J Jackson GC Barker FS Nundlall S Bella J Wright MJ Mortier GR Neas K Thompson E Elles R Briggs MD 《Human mutation》2005,25(6):593-594
Pseudoachondroplasia (PSACH) and some forms of multiple epiphyseal dysplasia (MED) result from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). COMP is a large pentameric glycoprotein found predominantly in the extracellular matrix of cartilage, tendon, and ligament. As a modular protein, it is composed of a coiled-coil domain, four type II (T2) repeats, eight type III (T3) repeats, and a large globular C-terminal domain (CTD). The majority (>85%) of COMP mutations causing PSACH or MED are found in the exons encoding the T3 repeats, and the disease mechanism has been characterised in detail. Much less is known about disease-causing mutations in the CTD; in 10 years only seven mutations have been identified. In this study, we describe eight novel and two recurrent mutations that we have recently identified in patients with PSACH or MED. Interestingly, these mutations result in a spectrum of disease, ranging from mild MED to severe PSACH. Mapping of all known COMP CTD mutations on a three-dimensional model of the C-terminal domain shows that the CTD mutations cluster in two distinct regions. These regions are probably important in stabilising the T3-CTD structure and mediating intra- or intermolecular interactions. 相似文献
3.
Elles van der Louw Joanne Olieman Marten J. Poley Tessa Wesstein Florianne Vehmeijer Coriene Catsman-Berrevoets Rinze Neuteboom 《European journal of paediatric neurology》2019,23(5):740-748
BackgroundChildren with pharmacoresistant epilepsy usually receive ketogenic diet (KD) as an inpatient, which makes it an expensive treatment.ObjectiveTo compare the effectiveness, safety, and costs of outpatient versus inpatient initiated KD.DesignRetrospective observational non-inferiority study.Patients/settingPatients (1–18 years of age) who started KD either inpatient or outpatient.Main outcome measuresEffectiveness was defined as ≥50% seizure reduction. Safety was measured by the numbers of emergency visits and complications. Economic impact was analyzed by calculating total costs of treatment.Statistical analysesNon-inferiority of outpatient initiation was tested using 95% confidence intervals of the differences in effectiveness and safety endpoints between groups with non-inferiority margins of 10%. Nonparametric bootstrap techniques were used to derive a 95% confidence interval for the mean difference in total costs between the groups.ResultsHundred and five patients started KD in the period 2001 to 2017: 43 inpatient and 62 outpatient. At three months, the KD was effective in 61% of outpatients versus 63% of inpatients. The KD was considered safe in 36% of the outpatients, as compared to 29% in the inpatients. Outpatient initiation was shown to be non-inferior to inpatient initiation in terms of safety. Total health care costs of outpatient initiation were € 2901, as compared to € 8195 of inpatient initiation per patient (mean difference € 5294, 95% CI; -€ 7653 to -€ 2935).ConclusionsOur study suggests that outpatient KD initiation is no worse than inpatient initiation in terms of effectiveness and safety, while carrying lower health care costs. 相似文献
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5.
Arja Gerritsen Roos A W Wennink Marc G H Besselink Hjalmar C van Santvoort Dorine S J Tseng Elles Steenhagen Inne H M Borel Rinkes I Quintus Molenaar 《HPB : the official journal of the International Hepato Pancreato Biliary Association》2014,16(7):656-664
Objective
The aim of this study was to evaluate whether a change in the routine feeding strategy applied after pancreatoduodenectomy (PD) from nasojejunal tube (NJT) feeding to early oral feeding improved clinical outcomes.Methods
An observational cohort study was performed in 102 consecutive patients undergoing PD. In period 1 (n = 51, historical controls), the routine postoperative feeding strategy was NJT feeding. This was changed to a protocol of early oral feeding with on-demand NJT feeding in period 2 (n = 51, consecutive prospective cohort). The primary outcome was time to resumption of adequate oral intake.Results
The baseline characteristics of study subjects in both periods were comparable. In period 1, 98% (n = 50) of patients received NJT feeding, whereas in period 2, 53% (n = 27) of patients did so [for delayed gastric empting (DGE) (n = 20) or preoperative malnutrition (n = 7)]. The time to resumption of adequate oral intake significantly decreased from 12 days in period 1 to 9 days in period 2 (P = 0.015), and the length of hospital stay shortened from 18 days in period 1 to 13 days in period 2 (P = 0.015). Overall, there were no differences in the incidences of complications of Clavien–Dindo Grade III or higher, DGE, pancreatic fistula, postoperative haemorrhage and mortality between the two periods.Conclusions
The introduction of an early oral feeding strategy after PD reduced the time to resumption of adequate oral intake and length of hospital stay without negatively impacting postoperative morbidity. 相似文献6.
7.
Cognitive functions require the integrated activity of multiple specialized, distributed brain areas. Such functional coupling depends on the existence of anatomical connections between the various brain areas as well as physiological processes whereby the activity in one area influences the activity in another area. Recently, the Synchronization Likelihood (SL) method was developed as a general method to study both linear and nonlinear aspects of coupling. In the present study the genetic architecture of the SL in different frequency bands was investigated. Using a large genetically informative sample of 569 subjects from 282 extended twin families we found that the SL is moderately to highly heritable (41-67%) especially in the alpha frequency (8-13 Hz) range. This index of functional connectivity of the brain has been associated with a number of pathological states of the brain. The significant heritability found here suggests that SL can be used to examine the genetic susceptibility to these conditions. 相似文献
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9.
Ben A. van Hout Elles S. Goes Els W.M. Grijseels Michael A.Quarles van Ufford 《Progress in cardiovascular diseases》1999,42(2):167-173
Economic evaluations figure largely in health care. Economic evaluation aims at offering structured information about the balance between costs and effects of a intervention in comparison to another intervention. Four basic types of economic evaluation studies exist: cost-minimization analysis, cost-effectiveness analysis, cost-utility analysis, and cost-benefit analysis. In deciding which types of evaluation should be used in the analysis, the aim of the analysis is determinative. This article illustrates the theory of economic evaluation and concentrates on its use within cardiology. Finally, this article describes the project "Appropriate Medical Care," a project developed by the Royal Dutch Medical Association. In this project results from cost-effectiveness analysis will be taken into consideration in forming guidelines for the treatment of coronary artery diseases. 相似文献
10.
Maria Fiorella Contarino MD Elles Berger‐Plantinga MD Elisabeth M.J. Foncke MD Katja Ritz MSc Jonke Mellema MD Frank Baas PhD Johannes D. Speelman MD PhD Marina A.J. Tijssen MD PhD 《Movement disorders》2008,23(14):1998-2003
We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were classified as “affected,” “possibly affected,” or “not affected.” A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio‐cervical‐brachial dystonia. Mean age at onset was 45.5 years (range, 39–56). Mean BFMDRS motor score was 4.4 (range, 1–8). Mean TWSTRS score (part I) was 11.3 (range, 8–23). Mutations in DYT1 gene and in the ε‐sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. © 2008 Movement Disorder Society 相似文献