75 research outputs found
Sixty strabismus cases operated with the Computerized Strabismus Model 1.0: When does it benefit, when not?
While, in routine strabismus surgery, empirical guidelines and experience are the best in judging which eye muscles to operate, a complex case may need a unique surgical approach, the consequences of which cannot always be envisioned in detail. We sought to improve the results of surgery in these cases by preoperative simulation of each case with the Computerized Strabismus Model 1.0 (CSM). The basis of this model was laid by David A. Robinson. It has been improved by us over the past years to the point that it can be used clinically. Improvements concerned, for example, the mechanics of the eye muscles and the anatomy of insertions and origins. The ease of operation has been improved and the algorithms have been made so much faster that a full calculation for 9 positions of gaze now takes 10 seconds on a hand-held Hewlett Packard 200LX Palmtop. From 1994 onwards, all cases to be operated in our department which were more complex than straightforward horizontal rectus muscle surgery were simulated in the model preoperatively. The predictions of the model compared well with the actual result of surgery in most cases. The model was particularly good in handling complex and unique disorders of motility. However, the model could not reliably predict the effect of strabismus surgery in cases with mechanical restrictions of motilit
Eye colour and skin pigmentation as significant factors for refractive outcome and residual accommodation in hypermetropic children: a randomized clinical trial using cyclopentolate 1% and tropicamide 1%
Purpose To compare the refractive outcome and residual accommodation with respect to various degrees of iris and skin pigmentation in hypermetropic children using 2 drops of cyclopentolate 1% (C + C) or 1 drop of cyclopentolate 1% and 1 drop of tropicamide 1% (C + T). Methods Two hundred fifty-one hypermetropic children were classified according to iris and skin pigmentation (light, medium, dark) and received randomized and double-blind C + C or C + T. Refractive error (spherical equivalent, SEQ) was determined using the Retinomax-K + 3. In 204 subjects, residual accommodation (RA) was determined using the PlusoptiX PowerRefractor. Results A linear mixed model with a light-irided and light skin-pigmented reference group receiving C + T (mean SEQ +3.10 +/- 1.87D) indicated significant less hypermetropia in subjects with a dark iris having a medium- and dark-pigmented skin in C + T, -1.02 +/- 0.29 (-1.59/-0.45) and -1.53 +/- 0.30 (-2.10/-0.95); and in subjects having a light-, medium- and dark-pigmented skin in C + C, -0.74 +/- 0.34 (-1.41/-0.06), -1.26 +/- 0.30 (-1.85/-0.66) and -1.84 +/- 0.30 (-2.42/-1.26). Similar findings were present for RA. Our model with a light-irided and light skin-pigmented reference group receiving C + T (mean RA +0.84 +/- 0.61D) indicated significantly higher RA in dark-irided subjects with medium- and dark-pigmented skin in C + T, +1.05 +/- 0.19 (+0.67/+1.43) and +1.35 +/- 0.20 (+0.9/+1.74), and in C + C, +1.13 +/- 0.21 (+0.71/+1.55) and +1.90 +/- 0.19 (+1.51/+2.28). Conclusions We found solid evidence that skin pigmentation rather than iris pigmentation is the decisive factor for effectiveness of cycloplegics. Awareness of the limitations of cycloplegic regimens in dark-irided/pigmented children is needed. Our study showed that cyclopentolate 1% combined with tropicamide 1% provides more accurate refractive outcomes both statistically and clinically integrating the factor skin pigmentation for dark-irided subjects.Ophthalmic researc
Epidemiology of orbital fractures in a large hospital in the Netherlands: results of implementation of a multidisciplinary orbital trauma team
Introduction:This study aims to describe the epidemiology, aetiology and therapy of orbital fractures in a large municipal hospital in The Hague, Netherlands, and to demonstrate the effectiveness of an integrated approach of orbital trauma care with a team consisting of an ophthalmologist, an orthoptist and an oral and maxillofacial (OMF) surgeon.Methods:We obtained data from patients with an orbital fracture between June 2015 until July 2018. Primary outcomes were the classification of orbital fractures and treatment (conservative or surgical).Results:182 patients were included in this study. The most common type of orbital fracture was an isolated orbital floor fracture (n=56, 30.8%). In most cases, therapy was conservative (69.2%). When surgical repair was indicated, a polydioxanone (PDS) plate was most commonly used (11.5%). The main cause of an orbital fracture was a fall accident (38.5%), followed by assault (32.4%). 32.4% of the patients were intoxicated with alcohol.Conclusion:In our study population, almost 70% (69.2%) of the patients were treated conservatively in our study. Compared to the international literature, this percentage is considerably higher than in other studies. In our opinion, our integrated approach to orbital trauma has led to a justifiable reduction of the proportion of cases receiving surgical intervention in orbital fractures. We would like to advocate the implementation of a similar team in other hospitals to improve the quality and cost-effectiveness of treatment in patients with orbital fractures.Imaging- and therapeutic targets in neoplastic and musculoskeletal inflammatory diseas
The value of merging medical data from ambulance services and general practice cooperatives using triple aim outcomes
Background: Acute care services are currently overstretched in many high income countries. Overcrowding also plays a major role in acute care in the Netherlands. In a region of the Netherlands, the general practice cooperative (GPC) and ambulance service have begun to integrate their care, and the rapid and complete transfer of information between these two care organisations is now the basis for delivering appropriate care. The primary aim of this mixed-methods study is to evaluate the Netherlands Triage System (NTS) merger project and answering the question: What is the added value of implementing a digital NTS merger in terms of healthcare use and healthcare costs? A secondary question is: What are the experiences of patients and care professionals in different acute healthcare organisations following implementation of the digital NTS merger?Methods: Patients who made an acute care request during the 12 months before the NTS merge intervention (control period) were compared with matched patients in the 12 months following the start of the NTS merge. Outcomes included difference in healthcare use 30 days after an acute event and patient' and care professional' experiences during the intervention period. To assess healthcare costs, we used reference prices updated to 2021.Results: Compared to patients in the control period, patients in the intervention period were hospitalized less often (52.9% vs 64.4%, p = 0.061) and had fewer emergency department (ED) visits (58.7% vs 69.3%, p = 0.074) in the 30 days following the acute care request. The ED costs were significantly lower during the intervention period compared to the control period (p = 0.042). Furthermore, patients in the intervention period were very satisfied overall with the acute care network (4.63 of 5) and care professionals were fairly satisfied with the cooperation to date (2.73 of 4).Conclusion: The Triple Aim for acute care can be met using relatively simple interventions, but medical data merging is a prerequisite for achieving more robust results covering on the various aspects of the Triple Aim. These successes should be communicated so that a common language can be developed that will support the successful further implementation of larger scale initiatives.Prevention, Population and Disease management (PrePoD)Public Health and primary car
Costs and effects of conventional vision screening and photoscreening in the Dutch preventive child health care system
Background: Little is known about costs and effects of vision screening strategies to detect amblyopia. Aim of this study was to compare costs and effects of conventional (optotype) vision screening, photoscreening or a combination in children aged 3-6 years. Methods: Population-based, cross-sectional study in preventive child health care in The Hague. Children aged 3 years (3y), 3 years and 9 months (3y9m) or 5-6 years (5/6y) received the conventional chart vision screening and a test with a photoscreener (Plusoptix 512C). Costs were based on test duration and additional costs for devices and diagnostic work-up. Results: Two thousand, one hundred and forty-four children were included. The estimated costs per child screened were (sic)17.44, (sic)20.37 and (sic)6.90 for conventional vision screening at 3y, 3y9m and 5/6y, respectively. For photoscreening, these estimates were (sic)6.61, (sic)7.52 and (sic)9.40 and for photoscreening followed by vision screening if the result was unclear (combination) (sic)9.32 (3y) and (sic)9.33 (3y9m). The number of children detected with amblyopia by age were 9, 14 and 5 (conventional screening), 6, 13 and 3 (photoscreening) and 10 (3y) and 15 (3y9m) (combination), respectively. The estimated costs per child diagnosed with amblyopia were (sic)1500, (sic)1050 and (sic)860 for conventional vision screening, (sic)860, (sic)420 and (sic)1940 for photoscreensic)ing and (sic)730 (3y) and (sic)450 (3y9m) for the combination. Conclusions: Combining photoscreening with vision screening seems promising to detect amblyopia in children aged 3y/3y9m, whereas conventional screening seems preferable at 5/6y. As the number of study children with amblyopia is small, further research on the effects of these screening alternatives in detecting children with amblyopia is recommended.Research into fetal development and medicin
Sdhd and Sdhd/H19 Knockout Mice Do Not Develop Paraganglioma or Pheochromocytoma
BACKGROUND: Mitochondrial succinate dehydrogenase (SDH) is a component of both the tricarboxylic acid cycle and the electron transport chain. Mutations of SDHD, the first protein of intermediary metabolism shown to be involved in tumorigenesis, lead to the human tumors paraganglioma (PGL) and pheochromocytoma (PC). SDHD is remarkable in showing an 'imprinted' tumor suppressor phenotype. Mutations of SDHD show a very high penetrance in man and we postulated that knockout of Sdhd would lead to the development of PGL/PC, probably in aged mice. METHODOLOGY/PRINCIPAL FINDINGS: We generated a conventional knockout of Sdhd in the mouse, removing the entire third exon. We also crossed this mouse with a knockout of H19, a postulated imprinted modifier gene of Sdhd tumorigenesis, to evaluate if loss of these genes together would lead to the initiation or enhancement of tumor development. Homozygous knockout of Sdhd results in embryonic lethality. No paraganglioma or other tumor development was seen in Sdhd KO mice followed for their entire lifespan, in sharp contrast to the highly penetrant phenotype in humans. Heterozygous Sdhd KO mice did not show hyperplasia of paraganglioma-related tissues such as the carotid body or of the adrenal medulla, or any genotype-related pathology, with similar body and organ weights to wildtype mice. A cohort of Sdhd/H19 KO mice developed several cases of profound cardiac hypertrophy, but showed no evidence of PGL/PC. CONCLUSIONS: Knockout of Sdhd in the mouse does not result in a disease phenotype. H19 may not be an initiator of PGL/PC tumorigenesis
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations
Cellular mechanisms in basic and clinical gastroenterology and hepatolog
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
BACKGROUND: Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II). METHODS: Using conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing to analyse genomic DNA from peripheral blood lymphocytes, here we describe the mutation analysis of the SDHB and SDHC genes in 37 patients with sporadic (i.e. no known family history) head and neck paraganglioma and five pheochromocytoma and/or paraganglioma families. RESULTS: Two sporadic patients were found to have a SDHB splice site mutation in intron 4, c.423+1G>A, which produces a mis-spliced transcript with a 54 nucleotide deletion, resulting in an 18 amino acid in-frame deletion. A third patient was found to carry the c.214C>T (p.Arg72Cys) missense mutation in exon 4 of SDHC, which is situated in a highly conserved protein motif that constitutes the quinone-binding site of the succinate: ubiquinone oxidoreductase (SQR) complex in E. coli. Together with our previous results, we found 27 germline mutations of SDH genes in 95 cases (28%) of sporadic head and neck paraganglioma. In addition all index patients of five families showing hereditary pheochromocytoma-paraganglioma were found to carry germline mutations of SDHB: four of which were novel, c.343C>T (p.Arg115X), c.141G>A (p.Trp47X), c.281G>A (p.Arg94Lys), and c.653G>C (p.Trp218Ser), and one reported previously, c.136C>T, p.Arg46X. CONCLUSION: In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of familial pheochromocytoma-paraganglioma
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