93 results on '"Hjelm N"'
Search Results
52. Moving with the sun
- Author
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Hjelm, N. M., Hazlett, C., Hsieh, R., and Lee, J. C.
- Published
- 2001
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53. Telemedicine in China
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Hsieh, R. K., Hjelm, N. M., Lee, J. C., and Aldis, J. W.
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- 2001
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54. Automated quantitative microcolumn chromatography of haemoglobin A2.
- Author
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Ersser, R. S., Blight, Leonie, Hjelm, N. M., Chambers, K., and James, D.
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- 1991
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55. A survey of physicians' acceptance of telemedicine.
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Liu Sheng, Olivia R., Jen-Hwa Hu, Paul, Chau, Patrick Y. K., Hjelm, N. M., Kar Yan Tam, Chih-Ping Wei, and Tse, John
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TELEMEDICINE ,MEDICINE ,MEDICAL telematics ,MEDICAL care ,COMPUTERS in medicine ,MEDICAL informatics - Abstract
Physicians' acceptance of telemedicine is an important managerial issue facing health-care organizations that have adopted, or are about to adopt, telemedicine. Most previous investigations of the acceptance of telemedicine have lacked theoretical foundation and been of limited scope. We examined technology acceptance and usage among physicians and specialists from 49 clinical departments at eight public tertiary hospitals in Hong Kong. Out of the 1021 questionnaires distributed, 310 were completed and returned, a 30 response rate. The preliminary findings suggested that use of telemedicine among clinicians in Hong Kong was moderate. While 18 of the respondents were using some form of telemedicine for patient care and management, it accounted for only 6.3 of the services provided. The intensity of their technology usage was also low, accounting for only 6.8 of a typical telemedicine-assisted service. These preliminary findings have managerial implications. [ABSTRACT FROM AUTHOR]
- Published
- 1998
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56. A case-control study of unexpected infant death in Hong Kong
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Nelson, E. A. S., To, K. F., Wong, D., Chow, C. B., Dickinson, J. A., Ou, Y., Yu, L. M., Kai Chow Choi, Wong, E., Tang, N. L. S., Hjelm, N. M., and Chen, L.
57. Quantitative analysis of cell-free Epstein-Barr virus DNA in plasma of patients with nasopharyngeal carcinoma
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Lo, Y. M. D., Chan, L. Y. S., Lo, K. W., Leung, S. F., Zhang, J., Chan, A. T. C., Lee, J. C. K., Hjelm, N. M., Johnson, P. J., and Huang, D. P.
58. Quantitative and temporal correlation between circulating cell-free Epstein-Barr virus DNA and tumor recurrence in nasopharyngeal carcinoma
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Lo, Y. M. D., Chan, L. Y. S., Chan, A. T. C., Leung, S. F., Lo, K. W., Zhang, J., Lee, J. C. K., Hjelm, N. M., Johnson, P. J., and Huang, D. P.
59. Ratios for very-long-chain fatty acids in plasma of subjects with peroxisomal disorders, as determined by HPLC and validated by gas chromatography-mass spectrometry.
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Hall, N A, primary, Lynes, G W, primary, and Hjelm, N M, primary
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- 1988
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60. Commentary. Telemedicine videoconferences--often chaotic but can be orderly.
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Hjelm, N M
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TELECOMMUNICATION ,TELEMEDICINE - Published
- 1999
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61. Engineered cortical microcircuits for investigations of neuroplasticity.
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Winter-Hjelm N, Sikorski P, Sandvig A, and Sandvig I
- Abstract
Recent advances in neural engineering have opened new ways to investigate the impact of topology on neural network function. Leveraging microfluidic technologies, it is possible to establish modular circuit motifs that promote both segregation and integration of information processing in the engineered neural networks, similar to those observed in vivo . However, the impact of the underlying topologies on network dynamics and response to pathological perturbation remains largely unresolved. In this work, we demonstrate the utilization of microfluidic platforms with 12 interconnected nodes to structure modular, cortical engineered neural networks. By implementing geometrical constraints inspired by a Tesla valve within the connecting microtunnels, we additionally exert control over the direction of axonal outgrowth between the nodes. Interfacing these platforms with nanoporous microelectrode arrays reveals that the resulting laminar cortical networks exhibit pronounced segregated and integrated functional dynamics across layers, mirroring key elements of the feedforward, hierarchical information processing observed in the neocortex. The multi-nodal configuration also facilitates selective perturbation of individual nodes within the networks. To illustrate this, we induced hypoxia, a key factor in the pathogenesis of various neurological disorders, in well-connected nodes within the networks. Our findings demonstrate that such perturbations induce ablation of information flow across the hypoxic node, while enabling the study of plasticity and information processing adaptations in neighboring nodes and neural communication pathways. In summary, our presented model system recapitulates fundamental attributes of the microcircuit organization of neocortical neural networks, rendering it highly pertinent for preclinical neuroscience research. This model system holds promise for yielding new insights into the development, topological organization, and neuroplasticity mechanisms of the neocortex across the micro- and mesoscale level, in both healthy and pathological conditions.
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- 2024
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62. Structure-function dynamics of engineered, modular neuronal networks with controllable afferent-efferent connectivity.
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Winter-Hjelm N, Brune Tomren Å, Sikorski P, Sandvig A, and Sandvig I
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- Models, Biological, Microelectrodes, Brain, Nerve Net physiology, Neurons physiology, Axons physiology
- Abstract
Objective. Microfluidic devices interfaced with microelectrode arrays have in recent years emerged as powerful platforms for studying and manipulating in vitro neuronal networks at the micro- and mesoscale. By segregating neuronal populations using microchannels only permissible to axons, neuronal networks can be designed to mimic the highly organized, modular topology of neuronal assemblies in the brain. However, little is known about how the underlying topological features of such engineered neuronal networks contribute to their functional profile. To start addressing this question, a key parameter is control of afferent or efferent connectivity within the network. Approach. In this study, we show that a microfluidic device featuring axon guiding channels with geometrical constraints inspired by a Tesla valve effectively promotes unidirectional axonal outgrowth between neuronal nodes, thereby enabling us to control afferent connectivity. Main results. Our results moreover indicate that these networks exhibit a more efficient network organization with higher modularity compared to single nodal controls. We verified this by applying designer viral tools to fluorescently label the neurons to visualize the structure of the networks, combined with extracellular electrophysiological recordings using embedded nanoporous microelectrodes to study the functional dynamics of these networks during maturation. We furthermore show that electrical stimulations of the networks induce signals selectively transmitted in a feedforward fashion between the neuronal populations. Significance. A key advantage with our microdevice is the ability to longitudinally study and manipulate both the structure and function of neuronal networks with high accuracy. This model system has the potential to provide novel insights into the development, topological organization, and neuroplasticity mechanisms of neuronal assemblies at the micro- and mesoscale in healthy and perturbed conditions., (Creative Commons Attribution license.)
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- 2023
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63. Modified Selective Neurectomy: A New Paradigm in the Management of Facial Palsy with Synkinesis.
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Azizzadeh B and Hjelm N
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- Denervation, Facial Nerve surgery, Humans, Smiling, Facial Paralysis surgery, Synkinesis etiology, Synkinesis surgery
- Abstract
All patients with postparalytic facial paralysis are at risk of developing synkinesis due to aberrant nerve regeneration. Synkinesis can result in smile dysfunction, tension, and eyelid aperture narrowing due to overactive and uncoordinated muscle activity. When the synkinesis causes an asymmetric smile, there are several treatment modalities including neurotoxin, neuromuscular retraining, and surgery. Modified selective neurectomy of the facial nerve is a treatment option that potentially can improve the smile mechanism by reducing the activity of counterproductive facial muscles while preserving the natural neural pathway., Competing Interests: Disclosure Dr. Azizzadeh gets royalties from Elsevier and Quality Medical Publishing., (Copyright © 2021 Elsevier Inc. All rights reserved.)
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- 2021
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64. Long-Term Changes in the Treatment Pattern of Botulinum Toxin A Injections for Postfacial Paralysis Synkinesis Following Modified Selective Neurectomy.
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Hjelm N, Crippen M, and Azizzadeh B
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- Botulinum Toxins, Type A therapeutic use, Drug Administration Schedule, Facial Asymmetry etiology, Facial Asymmetry physiopathology, Facial Muscles physiopathology, Facial Paralysis physiopathology, Facial Paralysis surgery, Humans, Injections, Intramuscular, Neuromuscular Agents therapeutic use, Perioperative Care, Postoperative Period, Retrospective Studies, Smiling, Synkinesis etiology, Synkinesis physiopathology, Treatment Outcome, Botulinum Toxins, Type A administration & dosage, Denervation, Facial Asymmetry drug therapy, Facial Nerve surgery, Facial Paralysis complications, Neuromuscular Agents administration & dosage, Synkinesis drug therapy
- Published
- 2021
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65. Sonic Rhinoplasty: Review and Updated Uses.
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Hjelm N, Goldfarb J, Krein H, Heffelfinger RN, and Pribitkin E
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- Cartilage transplantation, Humans, Nose surgery, Retrospective Studies, Rhinoplasty, Ultrasonic Therapy
- Abstract
The ultrasonic bone aspirator (UBA) allows for precision and provides ease of use in multiple steps of cosmetic and functional rhinoplasties. Its use has previously been described; however, since the publication of many studies the UBA has been improved and its applications for rhinoplasty have been modified and expanded. Both bony and cartilaginous modifications to the nose can be aided with the use of the UBA. From our experience, patient results have subjectively been found to be more acceptable, if not better, than with the use of other rhinoplasty instruments., Competing Interests: None declared., (Thieme. All rights reserved.)
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- 2021
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66. Concurrent Parotidectomy with Symmetrical Facial Repositioning and Reconstruction: An Algorithmic Approach.
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Hjelm N, Larian B, and Azizzadeh B
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- Humans, Algorithms, Facial Asymmetry prevention & control, Parotid Neoplasms surgery, Plastic Surgery Procedures methods
- Published
- 2021
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67. Efficacy and safety of rapid tests to guide antibiotic prescriptions for sore throat.
- Author
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Cohen JF, Pauchard JY, Hjelm N, Cohen R, and Chalumeau M
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- Adult, Bacteriological Techniques, Child, Drug Prescriptions statistics & numerical data, Female, Humans, Male, Pharyngitis virology, Randomized Controlled Trials as Topic, Streptococcal Infections microbiology, Anti-Bacterial Agents therapeutic use, Pharyngitis drug therapy, Pharyngitis microbiology, Streptococcal Infections diagnosis, Streptococcus pyogenes isolation & purification
- Abstract
Background: Sore throat is a common condition caused by viruses or bacteria, and is a leading cause of antibiotic prescription in primary care. The most common bacterial species is group A streptococcus ('strep throat'). Between 50% to 70% of pharyngitis cases are treated with antibiotics, despite the majority of cases being viral in origin. One strategy to reduce antibiotics is to use rapid tests for group A streptococcus to guide antibiotic prescriptions. Rapid tests can be used alone or in combination with a clinical scoring system., Objectives: To assess the efficacy and safety of strategies based on rapid tests to guide antibiotic prescriptions for sore throat in primary care settings., Search Methods: We searched CENTRAL, MEDLINE, Embase, CINAHL, Web of Science, and LILACS, as well as the trial registries ClinicalTrials.gov and the WHO ICTRP on 5 June 2019., Selection Criteria: We included randomised controlled trials (RCTs) comparing rapid tests with management based on clinical grounds to guide the prescription of antibiotics for people with a sore throat in ambulatory care settings. We included trials that randomised individuals, as well as cluster-RCTs in which individual practitioners (or practices) or emergency departments were randomised., Data Collection and Analysis: Two review authors independently extracted data on the primary outcomes (number of participants provided with an antibiotic prescription; number of participants with an antibiotic dispensed) and secondary outcomes (duration of sore throat symptoms; duration of other symptoms; quality of life measures; number of participants with a complication attributed to the index infection; number of participants in need of re-consultation by the end of follow-up; number of participants in need of hospital admission by the end of follow-up; number of satisfied participants; number of participants with an adverse event attributed to the rapid test). We assessed the risk of bias of all included trials and used GRADE to assess the certainty of the evidence. We performed meta-analyses and sensitivity analyses when feasible., Main Results: We included five trials (2891 children and adult participants in total; 2545 participants after adjusting for clustering). Management in the intervention group was as follows: in three trials rapid tests were used in combination with a clinical scoring system; in one trial, some physicians were asked to use rapid tests alone, while others were asked to use rapid tests in combination with a clinical scoring system; in one trial, rapid tests were used alone. Based on data from five trials (2545 participants), a large reduction in prescribed antibiotics was found in the rapid test group (481/1197) versus management based on clinical grounds (865/1348), for a summary risk difference (RD) of -25%, 95% confidence interval (CI) -31% to -18%; I
2 = 62%; moderate-certainty evidence. Estimates of effect on antibiotic prescription rates were stable in various sensitivity analyses. Based on data from two trials (900 people) originating from the same overarching study, the evidence suggests that rapid tests may not reduce dispensed antibiotic treatments: rapid test group (156/445) versus management based on clinical grounds (197/455); summary RD -7%, 95% CI -17% to 2%; I2 = 53%; low-certainty evidence. Four trials (2075 participants) reported data on the number of participants with a complication attributed to the index infection; the summary odds ratio (OR) was 0.85, 95% CI 0.03 to 26.65; P = 0.93; I2 = 62%; very low-certainty evidence, which means that people in the rapid testing group were less likely to develop complications of the index infection, but the evidence is very uncertain. Two trials (1161 participants) reported on the number of participants in need of re-consultation by the end of follow-up; the summary OR was 1.12, 95% CI 0.57 to 2.21; P = 0.74; I2 = 59%; low-certainty evidence, which means that participants in the rapid testing group were more likely to be in need of re-consultation by the end of the study follow-up, but the evidence is uncertain. Lack of data impeded assessment of other secondary outcomes (including safety outcomes) and of sources of heterogeneity. AUTHORS' CONCLUSIONS: Rapid testing to guide antibiotic treatment for sore throat in primary care probably reduces antibiotic prescription rates by 25% (absolute risk difference), but may have little or no impact on antibiotic dispensing. More studies are needed to assess the efficacy and safety of rapid test-guided antibiotic prescribing, notably to evaluate patient-centred outcomes and variability across subgroups (e.g. adults versus children)., (Copyright © 2020 The Cochrane Collaboration. Published by John Wiley & Sons, Ltd.)- Published
- 2020
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68. Modified Selective Neurectomy with Symmetrical Facial Repositioning.
- Author
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Hjelm N and Azizzadeh B
- Subjects
- Humans, Denervation methods, Facial Asymmetry surgery, Facial Nerve surgery, Smiling, Synkinesis surgery
- Abstract
Importance: There are no surgical techniques described to treat synkinesis and concurrent facial asymmetry. We describe our innovative and effective approach and technique. Objective: To improve the spontaneous smile mechanism as well as facial symmetry in patients with synkinesis not only during the smile mechanism but also at rest. Design: Surgical pearls-surgical technique description. Setting: Private practice. Participants: Patients who underwent the operation.
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- 2020
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69. Safety of Concurrent Endoscopic Browlift and Blepharoplasty.
- Author
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Hjelm N, Sanan A, Krein H, and Heffelfinger RN
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- Eyebrows, Humans, Retrospective Studies, Blepharoplasty adverse effects, Rhytidoplasty adverse effects
- Abstract
The objective of the study was to evaluate the clinical safety of endoscopic browlift alone or in combination with blepharoplasty as a treatment for the aging face. This is a retrospective comparative study from 2007 to 2016 at a single tertiary care center. A consecutive sample of patients undergoing surgery for aging of the upper face was included in the study. Surgeries deemed to be inclusive were endoscopic browlift, upper blepharoplasty, and lower blepharoplasty. In total, 46 patients undergoing endoscopic browlift with concurrent blepharoplasty were included. Patient demographics, past medical history, follow-up, and any complications related to their surgery were studied up to 90 months postoperatively. Combination of endoscopic browlift with blepharoplasty did not increase the risk of complications on univariate analysis ( p = 0.735). There were no differences in complication rates on univariate analysis of patients with a smoking history, diabetes, or autoimmune disease ( p = 0.111, p = 0.575, p > 0.999, respectively). Furthermore, there was no difference between groups in complication rates, smoking history, diabetes, or autoimmune disease ( p = 0.735, p = 0.181, p = 0.310, p = 0.218, respectively). Smoking had an insignificant increased risk of complication as compared with nonsmokers on multivariate analysis (odds ratio [OR] = 4.526; p = 0.073). Increasing age was slightly associated with fewer complications on multivariate analysis in this patient cohort (OR = 0.939; p = 0.048). By combining endoscopic browlift with a concomitant blepharoplasty, the goals of the patient and the standards of the surgeon can be effectively and safely achieved. Analysis of complications from 46 combined cases at our institution asserts that this is a safe operation. Smoking status was the only observed predictor for postoperative complications. This was a level of evidence 3, retrospective comparative study., Competing Interests: The authors report no conflicts of interest., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)
- Published
- 2019
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70. Functional outcomes of temporomandibular joint reconstruction with vascularized tissue.
- Author
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Hjelm N, Ortlip TE, Topf M, Luginbuhl A, Curry J, Krein H, and Heffelfinger R
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- Adult, Aged, Cohort Studies, Female, Follow-Up Studies, Humans, Male, Middle Aged, Mouth Neoplasms pathology, Recovery of Function, Retrospective Studies, Risk Assessment, Statistics, Nonparametric, Tertiary Care Centers, Treatment Outcome, Bone Transplantation methods, Mandibular Osteotomy methods, Mouth Neoplasms surgery, Plastic Surgery Procedures methods, Surgical Flaps transplantation, Temporomandibular Joint surgery
- Abstract
Objective: To determine how current temporomandibular joint (TMJ) reconstruction methods affect functional outcomes., Methods: Retrospective review from January 2006 to July 2017 at a single tertiary care center. All patients who underwent mandibulectomy with subsequent reconstruction with vascularized free tissue were included in the study. Condylar segments were reconstructed with vascularized free tissue flap in conjunction with autologous tissue or allograft in the joint space. Preoperative, 3 month, 1 year, and 2 year postoperative records were assessed for trismus, need for tube feeds, and Functional Oral Intake Scale (FOIS)., Results: Joint space was reconstructed with autologous tissue (n = 10), allograft (n = 15) or both (n = 9). At three months, FOIS scores significantly decreased from 5.4 preoperatively to 4.8 post operatively (P = .024) and need for tube feeds significantly increased from 15.8% preoperatively to 35.1% (P ≤0.027). Trismus significantly decreased from 63.2% to 27% (P = .006). At one-year, there were no significant changes in functional status compared to pre-operative state. Patients who had previous RT had significantly worse FOIS scores preoperatively (p = .002), at three months (p < .001), one year (p < .001), and two years (p = .008). There was no significant difference in postoperative functional status of patients based on the method of TMJ reconstruction., Conclusion: Reconstruction of the TMJ with vascularized free tissue is a viable option and yields acceptable long-term outcomes. While functional status may improve or worsen in the immediate postoperative period, long term results mirror preoperative function. Preoperative trismus will likely improve., Level of Evidence: Level 3; Retrospective Comparative Study., (Published by Elsevier Inc.)
- Published
- 2019
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71. Thermistor-controlled subdermal skin tightening for the aging face: Clinical outcomes and efficacy.
- Author
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Sanan A, Hjelm N, Tassone P, Krein H, and Heffelfinger RN
- Abstract
Objective: Patients are increasingly seeking nonsurgical treatment for the aging face. The purpose of this study was to evaluate the clinical efficacy and outcomes of a thermistor-controlled subdermal skin tightening device (ThermiTight) as a treatment modality for the aging face., Methods: A retrospective analysis of 12 patients was completed on patients having undergone ThermiTight for midface and neck skin tightening. Only five patients had a greater than 1 year follow-up and were included in the study. Two blinded reviewers assessed photographs taken pre-procedure and 1 year post-procedure using a standardized skin laxity scale. Patient charts were reviewed to assess for complications up to 12 months post-treatment., Results: The mean age of included patients was 57 years, and all five patients were female. One (20%) patient treated with ThermiTight was also treated with injectables (Botox, Juvéderm) simultaneously. One (20%) patient developed a wound complication. One (20%) patient complained of incisional site pain at her first postoperative visit that subsequently self-resolved. On a five-point scale to assess facial skin laxity, there was an average improved score of 0.85 per patient ( P < .001) at one year post-procedure. Two blinded reviewers correctly categorized photographs as either being "baseline" or "post-procedure" 100% of the time. There was no significant difference between the skin laxity scores by the blinded reviewers ( P = .05)., Conclusion: ThermiTight is a new technology used for nonsurgical treatment of the aging face. Long-term outcomes demonstrate the safety and efficacy of the procedure. Complications are rare, but possible, in the use of ThermiTight. Level of Evidence: 3.
- Published
- 2018
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72. Symptomatic Management of Febrile Illnesses in Children: A Systematic Review and Meta-Analysis of Parents' Knowledge and Behaviors and Their Evolution Over Time.
- Author
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Bertille N, Purssell E, Hjelm N, Bilenko N, Chiappini E, de Bont EGPM, Kramer MS, Lepage P, Lava SAG, Mintegi S, Sullivan JE, Walsh A, Cohen JF, and Chalumeau M
- Abstract
Recommendations to guide parents' symptomatic management of febrile illnesses in children have been published in many countries. The lack of systematic appraisal of parents' knowledge and behaviors and their evolution over time precludes an analysis of their impact and identification of targets for future educational messages. We systematically searched for studies published between 1980 and 2016 that reported a quantitative evaluation of knowledge and behaviors of >50 parents for managing fever in children. We used MEDLINE and tracked related articles, citations and co-authors personal files. Study selection and data extraction were independently performed by two reviewers. For each item of knowledge and behaviors, we calculated mean frequencies during the first and last quinquennials of the studied period and assessed temporal trends with inverse-variance weighted linear regression of frequencies over years. We observed substantial methodological heterogeneity among the 62 included articles (64 primary studies, 36,791 participants, 30 countries) that met inclusion criteria. Statistically significant changes over time were found in the use of rectal (98 to 4%) and axillary temperature measurement (1-19%), encouraging fluid intake (19-62%), and use of acetylsalicylic acid (60 to 1%). No statistically significant change was observed for the accurate definition of fever (38-55%), or the use of acetaminophen (91-92%) or ibuprofen (20-43%). Parents' knowledge and behaviors have changed over time but continue to show poor concordance with recommendations. Our study identified future targets for educational messages, including basic ones such as the definition of fever.
- Published
- 2018
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73. Survey highlights important discrepancies between definitions of paediatric abnormal growth taught to medical students in 23 European countries.
- Author
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Scherdel P, Hjelm N, Salaün JF, Heude B, and Chalumeau M
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- Education, Medical statistics & numerical data, Europe, Surveys and Questionnaires, Growth Disorders, Pediatrics education
- Abstract
Aim: This study compared the definitions of abnormal growth that are taught across Europe to explain previously reported variations in growth-monitoring practices., Methods: We developed two online surveys in 2016 to obtain the definitions of abnormal growth in European countries and approached the national chairs of the European Confederation of Primary Care Paediatricians in 18 countries and the International Federation of Medical Students' Associations in 33 countries., Results: We obtained definitions from 10 of 18 paediatricians and 18 of 33 students, covering 23 of the 33 European countries surveyed. Abnormal faltering growth was always defined, either by a single parameter (24%) or combined parameters (76%). Four static parameters were used: standardised height (100%), standardised weight (60%), standardised body mass index (12%) and distance to target height (20%). Two dynamic parameters were used: growth deflection (28%) and growth velocity (32%). The thresholds used to define abnormal faltering growth varied slightly in some cases and widely in others. Abnormal accelerated growth appeared in 52% of the definitions, with important variations in parameters and thresholds., Conclusion: There were important between-country discrepancies in the definitions of paediatric abnormal growth that were taught in 23 European countries. Standardisation is vital., (©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)
- Published
- 2018
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74. The effect of increased T2 signal intensity in the spinal cord on the injury severity and early neurological recovery in patients with central cord syndrome.
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Schroeder GD, Hjelm N, Vaccaro AR, Weinstein MS, and Kepler CK
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- Adult, Aged, Central Cord Syndrome physiopathology, Female, Humans, Injury Severity Score, Male, Middle Aged, Neurologic Examination, Prognosis, Retrospective Studies, Spinal Cord physiopathology, Central Cord Syndrome diagnostic imaging, Magnetic Resonance Imaging, Recovery of Function physiology, Spinal Cord diagnostic imaging
- Abstract
OBJECTIVE The aim of this paper was to compare the severity of the initial neurological injury as well as the early changes in the American Spinal Injury Association (ASIA) motor score (AMS) between central cord syndrome (CCS) patients with and without an increased T2 signal intensity in their spinal cord. METHODS Patients with CCS were identified and stratified based on the presence of increased T2 signal intensity in their spinal cord. The severity of the initial neurological injury and the progression of the neurological injury over the 1st week were measured according to the patient's AMS. The effect of age, sex, congenital stenosis, surgery within 24 hours, and surgery in the initial hospitalization on the change in AMS was determined using an analysis of variance. RESULTS Patients with increased signal intensity had a more severe initial neurological injury (AMS 57.6 vs 75.3, respectively, p = 0.01). However, the change in AMS over the 1st week was less severe in patients with an increase in T2 signal intensity (-0.85 vs -4.3, p = 0.07). Analysis of variance did not find that age, sex, Injury Severity Score, congenital stenosis, surgery within 24 hours, or surgery during the initial hospitalization affected the change in AMS. CONCLUSIONS The neurological injury is different between patients with and without an increased T2 signal intensity. Patients with an increased T2 signal intensity are likely to have a more severe initial neurological deficit but will have relatively minimal early neurological deterioration. Comparatively, patients without an increase in the T2 signal intensity will likely have a less severe initial injury but can expect to have a slight decline in neurological function in the 1st week.
- Published
- 2016
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75. Thyroid Cancer Metabolism: A Review.
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Gill KS, Tassone P, Hamilton J, Hjelm N, Luginbuhl A, Cognetti D, Tuluc M, Martinez-Outschoorn U, Johnson JM, and Curry JM
- Abstract
Metabolic dysregulation within the tumor microenvironment (TME) is critical to the process of tumorigenesis in various cancer types. Thyrocyte metabolism in papillary and anaplastic thyroid cancer, however, remains poorly characterized, and studies analyzing the role of multicompartment metabolism in thyrocyte oncogenesis are sparse. We present a review of the current knowledge on cellular metabolism in non-cancerous and cancerous thyroid tissues, focusing on the monocarboxylate transporters MCT1 and MCT4, and on a transporter of the outer mitochondrial membrane TOMM20. Understanding the metabolic phenotype of tumor cells and associated stromal cells in thyroid cancer can have profound implications on the use of biomarker staining in detecting subclinical cancer, imaging as it relates to expression of various transport proteins, and therapeutic interventions that manipulate this dysregulated tumor metabolism to halt tumorigenesis and eradicate the cancer. Future studies are required to confirm the prognostic significance of these biomarkers and their correlation with existing staging schemas such as the AGES, AMES, ATA and MACIS scoring systems.
- Published
- 2016
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76. Early outcome and predictors of early outcome in patients treated surgically for central cord syndrome.
- Author
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Kepler CK, Kong C, Schroeder GD, Hjelm N, Sayadipour A, Vaccaro AR, and Anderson DG
- Subjects
- Decompression, Surgical, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Predictive Value of Tests, Prognosis, Prospective Studies, Recovery of Function, Spinal Fractures diagnosis, Spinal Fractures surgery, Treatment Outcome, Central Cord Syndrome diagnosis, Central Cord Syndrome surgery
- Abstract
Object: The purpose of this study was to characterize changes in American Spinal Injury Association motor score (AMS) in the 1st week after traumatic central cord syndrome (CCS) to identify predictors of improved early outcome in patients treated with early versus delayed surgical intervention., Methods: All patients presenting to a regional spinal cord injury center between January 2004 and June 2009 were queried for those with a diagnosis of CCS. Patients treated conservatively were excluded. A prospectively maintained spinal cord injury database was used to track AMS throughout each patient's hospitalization. Hospital records provided information regarding demographics, presenting neurological examination, imaging findings, comorbidities, timing and nature of surgical procedures, and length of stay (LOS) in the hospital and intensive care unit (ICU). Patients were separated into those who underwent early surgery, within 1 day of presentation (early group), and those who underwent surgery on a delayed basis (delayed group). Differences between groups were analyzed using the Student t-test and chi-square test. Predictors of outcome were identified using correlation analysis and multiple linear regression., Results: Of 426 patients in the database, 80 (18.8%) were diagnosed as having CCS, and 68 of them ultimately underwent surgical decompression. Nineteen (28%) of 68 patients underwent surgery within 1 day of presentation (early group) while the remaining 49 patients (72%) underwent surgery on a delayed basis (delayed group). The mean age in the early group was significantly younger than that of the delayed group (52 vs 59 years, p = 0.049). Other characteristics were similar between groups including sex, proportion of patients with cord edema on MRI (44% early vs 55% delayed, p = 0.47), and proportion of patients with cervical fracture (26% early vs 28% delayed, p = 0.98). Patients in the early group presented with an AMS of 62.5 versus 70.0 for the delayed group (p = 0.36). No difference in the change in AMS was seen at 7 days between the early group (-2.9 points) and the delayed group (-4.2 points) (p = 0.34). Additionally, the number of patients who had early improvement was similar between the early and delayed groups (50% vs. 48%, respectively, p = 0.94). Neither time in the ICU (3.4 vs. 3.4 days, p = 0.84) nor the overall LOS (10.5 vs 12.5 days, p = 0.59) was different in the early versus delayed groups, respectively. Correlation analysis and multiple linear regression demonstrated early surgery was not associated with change in AMS or AMS at Day 7. Age was identified as the only significant predictor of change in AMS and had a negative effect (coefficient = -0.34, p = 0.025)., Conclusions: Early treatment of patients with CCS remains controversial. Although some long-term neurological recovery is expected in patients with a CCS, surgeons and patients should not expect early neurological improvement with or without early operative intervention.
- Published
- 2015
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77. The effect of vertebral fracture on the early neurologic recovery in patients with central cord syndrome.
- Author
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Schroeder GD, Kepler CK, Hjelm N, Vaccaro AR, and Weinstein MS
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- Adult, Aged, Central Cord Syndrome etiology, Central Cord Syndrome pathology, Female, Humans, Injury Severity Score, Male, Middle Aged, Nerve Regeneration physiology, Prognosis, Recovery of Function, Spinal Fractures etiology, Spinal Fractures pathology, Central Cord Syndrome physiopathology, Spinal Fractures physiopathology
- Abstract
Purpose: To compare early changes in the ASIA Motor Score (AMS) between patients with central cord syndrome (CCS) from an acute fracture to patients without a fracture., Methods: Patients with CCS were identified and stratified based on the presence of a fracture. The AMS through the first week of the patients' hospitalization was obtained. Initial injury severity as well as early neurologic recovery was measured using the AMS. Analysis of variance was performed to determine if age, gender, rectal tone at presentation, congenital stenosis, or surgery within 24 h significantly effected the change in AMS., Results: A strong trend (p = 0.0504) towards a more severe initial neurologic injury in patients with a fracture (AMS 59.7) than in patients without a fracture (AMS 70.2) was identified. However, in the week after injury, patients with a fracture had an improvement in their neurologic function (ΔAMS +4.8) while patients without a fracture demonstrated neurologic decline (ΔAMS -5.9). The change in AMS between patients with and without a fracture was nearly significant (p = 0.06)., Conclusion: Patients with central cord syndrome present with similar symptoms, but injuries with and without a fracture may be associated with a different early neurologic recovery. Patients with a fracture have a more severe injury at initial presentation, but tend to have neurologic improvement in the first week; conversely patients without a fracture have a less severe initial neurologic injury, but tend to have a slight decline in neurologic function over the first week.
- Published
- 2015
- Full Text
- View/download PDF
78. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
- Author
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Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, and Toji L
- Subjects
- Alleles, Cell Line, DNA genetics, Humans, Myotonic Dystrophy blood, Myotonic Dystrophy genetics, Myotonic Dystrophy pathology, Myotonin-Protein Kinase, Protein Serine-Threonine Kinases blood, Protein Serine-Threonine Kinases isolation & purification, Reference Standards, Genetic Testing methods, Myotonic Dystrophy diagnosis, Protein Serine-Threonine Kinases genetics, Trinucleotide Repeat Expansion genetics
- Abstract
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG triplet repeat in the 3' untranslated region of the DMPK gene that encodes a serine-threonine kinase. Patients with larger repeats tend to have a more severe phenotype. Clinical laboratories require reference and quality control materials for DM1 diagnostic and carrier genetic testing. Well-characterized reference materials are not available. To address this need, the Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing community, the National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members, and the Coriell Cell Repositories, has established and characterized cell lines from patients with DM1 to create a reference material panel. The CTG repeats in genomic DNA samples from 10 DM1 cell lines were characterized in three clinical genetic testing laboratories using PCR and Southern blot analysis. DMPK alleles in the samples cover four of five DM1 clinical categories: normal (5 to 34 repeats), mild (50 to 100 repeats), classical (101 to 1000 repeats), and congenital (>1000 repeats). We did not identify or establish Coriell cell lines in the premutation range (35 to 49 repeats). These samples are publicly available for quality control, proficiency testing, test development, and research and should help improve the accuracy of DM1 testing., (Copyright © 2013 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2013
- Full Text
- View/download PDF
79. Injury profile in junior tennis players: a prospective two year study.
- Author
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Hjelm N, Werner S, and Renstrom P
- Subjects
- Adolescent, Ankle Injuries epidemiology, Athletic Injuries classification, Athletic Injuries epidemiology, Child, Female, Humans, Incidence, Knee Injuries epidemiology, Male, Prospective Studies, Rotator Cuff Injuries, Sex Distribution, Sprains and Strains epidemiology, Sweden epidemiology, Elbow Injuries, Tennis injuries
- Abstract
The aim of this study was to prospectively make a survey of injuries in junior players from a Swedish local tennis club during a 2-year period in relation to gender, anatomic location, month of the year when injured, injury type and injury severity. All 12-18 years old members in a tennis club playing more than twice weekly were asked to participate. Fifty-five junior tennis players, 35 boys and 20 girls accepted to participate. All tennis-related injuries were prospectively registered and evaluated. Time of exposure for playing tennis was recorded. Thirty-nine players sustained 100 injuries, 73 in boys and 27 in girls. Injury incidence for boys was 1.7 injuries/1000 h of tennis playing time and for girls 0.6 injuries/1000 h. Ankle sprains, low back pain and knee injuries were the most common ones. Sixty-five percent were new injuries, and the majority of these injuries were located at the knee joint followed by the ankle joint, while most of the recurrent injuries were found in the lumbar spine. Boys suffered mainly from low back pain and ankle injuries and girls from low back pain and knee injuries. Forty-three percent of the injuries caused absence from tennis for more than 4 weeks and 31% more than 1 week.
- Published
- 2010
- Full Text
- View/download PDF
80. Social capital, gold for telemedicine?
- Author
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Hjelm NM, Wootton R, and Staines D
- Subjects
- Communication, Health Services Accessibility organization & administration, Health Status, Humans, Interpersonal Relations, Peer Group, Quality of Life, Self-Help Groups organization & administration, Socioeconomic Factors, Social Support, Telemedicine organization & administration
- Abstract
Value norms within an interactive social network, social capital, can improve many aspects of the quality of life including health. Effective means of communication are key to making the social capital available. Telemedicine is therefore well placed to playing an important role in providing social capital to many groups in a society, which are at present deprived of this resource for maintaining health.
- Published
- 2003
81. Wiring a medical school and teaching hospital for telemedicine.
- Author
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Hjelm NM, Lee JC, Cheng D, and Chui C
- Subjects
- Computers, Hospital Information Systems, Humans, Multimedia, Hospitals, Teaching, Schools, Medical, Telemedicine instrumentation
- Abstract
The planning and installation of a telemedicine system for communication within a teaching hospital and its academic and hospital units with a capacity for accommodation of up to 400 video-stations is described. The system is intended for improving the communication between patients and health professionals, and between the health professionals themselves. It also provides the basis for improving pre-graduate teaching, especially problem-based learning, and all aspects of postgraduate teaching.
- Published
- 2002
- Full Text
- View/download PDF
82. Theory of telemedicine: the expressivity of the virtual patient.
- Author
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Hjelm NM and Hazlett CB
- Subjects
- Humans, Sensitivity and Specificity, User-Computer Interface, Models, Theoretical, Telemedicine methods
- Published
- 2000
- Full Text
- View/download PDF
83. Sodium salicylate-induced apoptosis of human peripheral blood eosinophils is independent of the activation of c-Jun N-terminal kinase and p38 mitogen-activated protein kinase.
- Author
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Wong CK, Zhang JP, Lam CW, Ho CY, and Hjelm NM
- Subjects
- Blotting, Western, Calcium-Calmodulin-Dependent Protein Kinases antagonists & inhibitors, Dose-Response Relationship, Drug, Enzyme Inhibitors pharmacology, Eosinophils drug effects, Eosinophils enzymology, Humans, Imidazoles pharmacology, JNK Mitogen-Activated Protein Kinases, Oligonucleotides, Antisense chemistry, Pyridines pharmacology, Time Factors, p38 Mitogen-Activated Protein Kinases, Anti-Inflammatory Agents, Non-Steroidal pharmacology, Apoptosis drug effects, Calcium-Calmodulin-Dependent Protein Kinases metabolism, Eosinophils pathology, Mitogen-Activated Protein Kinases metabolism, Sodium Salicylate pharmacology
- Abstract
Background: It has been shown that the inhibition of eosinophilic apoptosis is an important mechanism for the development of blood and tissue eosinophilia in allergic diseases. Considerable attention has recently been focused on the role played by different intracellular kinase cascades in the control of apoptosis. In the present study, we investigated the effect of sodium salicylate (NaSal), a nonsteroidal anti-inflammatory drug, on mitogen-activated protein kinases (MAPK) and apoptosis of human eosinophils., Methods: Human blood eosinophils were purified from buffy coat. NaSal-induced apoptosis of eosinophils was assessed by morphological changes and Annexin-V binding assay. Changes of MAPK activity upon treatment with NaSal were measured by kinase activity assay and Western blot., Results: NaSal could induce apoptosis of human blood eosinophils in a dose- and time-dependent manner. It could also activate c-Jun N-terminal kinase (JNK) and p38 MAPK but not extracellular signal-regulated protein kinase (ERK) activity within 1 h. Pretreatment of eosinophils with p38 MAPK and JNK anti-sense (AS) phosphorothioate oligodeoxynucleotides (ODN) or specific p38 MAPK inhibitor SB 203580 did not have any significant effect on NaSal-induced apoptosis. However, ERK AS ODNs could trigger the apoptosis of normal eosinophils., Conclusion: There is no direct relationship between the activation of JNK and p38 MAPK pathways and NaSal-induced apoptosis in human peripheral blood eosinophils., (Copyright 2000 S. Karger AG, Basel)
- Published
- 2000
- Full Text
- View/download PDF
84. Quantitative and temporal correlation between circulating cell-free Epstein-Barr virus DNA and tumor recurrence in nasopharyngeal carcinoma.
- Author
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Lo YM, Chan LY, Chan AT, Leung SF, Lo KW, Zhang J, Lee JC, Hjelm NM, Johnson PJ, and Huang DP
- Subjects
- Bone Neoplasms secondary, Carcinoma, Squamous Cell diagnosis, Carcinoma, Squamous Cell radiotherapy, Case-Control Studies, Disease-Free Survival, Follow-Up Studies, Humans, Liver Neoplasms secondary, Lung Neoplasms secondary, Nasopharyngeal Neoplasms diagnosis, Nasopharyngeal Neoplasms radiotherapy, Neoplasm Recurrence, Local genetics, Neoplasm Recurrence, Local virology, Polymerase Chain Reaction methods, Prognosis, Time Factors, Carcinoma, Squamous Cell virology, DNA, Viral blood, Herpesvirus 4, Human genetics, Nasopharyngeal Neoplasms virology
- Abstract
Recently, cell-free EBV DNA has been detected in the plasma and serum of patients with nasopharyngeal carcinoma (NPC). We studied the relationship between plasma/serum EBV DNA and tumor recurrence. Using real-time quantitative PCR, the median plasma EBV DNA concentration in 10 patients with tumor recurrence was determined to be 32,350 copies/ml, whereas that in 15 patients in continuous remission for a mean period of 2 years was 0 copy/ml. Longitudinal follow-up of 17 NPC patients revealed 6 individuals with tumor recurrence and 11 patients who remained in remission. Significant elevations in serum EBV DNA, sometimes up to 6 months before detectable clinical deterioration, were observed in the patients who subsequently developed tumor recurrence. Continuously low or undetectable levels of serum EBV DNA were observed in the patients who remained in remission. These results suggest that plasma/serum cell-free EBV DNA may be a valuable tool for the monitoring of NPC patients for the early detection of tumor recurrence.
- Published
- 1999
85. Quantitative analysis of aberrant p16 methylation using real-time quantitative methylation-specific polymerase chain reaction.
- Author
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Lo YM, Wong IH, Zhang J, Tein MS, Ng MH, and Hjelm NM
- Subjects
- Humans, Sensitivity and Specificity, Time Factors, DNA Methylation, Genes, p16, Polymerase Chain Reaction methods
- Abstract
We have developed a quantitative method for methylation analysis of the p16 gene based on real-time methylation-specific PCR (MSP). Real-time MSP is sensitive enough to detect down to 10 genome equivalents of the methylated p16 sequence. Application of real-time MSP to DNA from tumor-derived cell lines revealed complete concordance with conventional MSP analysis. Quantitative data generated by real-time MSP were expressed as the methylation index, which was defined as the percentage of bisulfite-converted DNA that consisted of methylated target sequences. The methylation index was shown to be inversely correlated with p16 gene transcription during demethylation treatment of cell lines with 5-aza-2'-deoxycytidine. The application of real-time MSP to bone marrow aspirates from patients with multiple myeloma revealed complete concordance with conventional MSP analysis. Real-time quantitative MSP may have applications in elucidating diverse biological processes involving DNA methylation and may become a valuable diagnostic tool for detecting tumor-associated epigenetic changes in cancer patients.
- Published
- 1999
86. Differentiation of a human eosinophilic leukemic cell line, EoL-1: characterization by the expression of cytokine receptors, adhesion molecules, CD95 and eosinophilic cationic protein (ECP).
- Author
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Wong CK, Ho CY, Lam CW, Zhang JP, and Hjelm NM
- Subjects
- Antigens, CD analysis, Antigens, Differentiation, Apoptosis, Blood Proteins analysis, Blood Proteins genetics, Bucladesine pharmacology, Cell Adhesion Molecules analysis, Cell Differentiation, Eosinophil Granule Proteins, Humans, Integrin alpha4, Macrophage-1 Antigen analysis, RNA, Messenger analysis, Receptors, Cytokine analysis, Tumor Cells, Cultured, fas Receptor analysis, Eosinophils cytology, Hypereosinophilic Syndrome, Ribonucleases
- Abstract
Purification of enough eosinophils for the study of allergic inflammation is difficult because eosinophils comprise only a small percentage of circulating leucocytes. A human eosinophilic leukemic cell line, EoL-1, has been considered to be an in vitro eosinophilic model. In the present study, the suitability of EoL-1 cells as an eosinophilic model was further investigated. EoL-1 cells were induced to differentiate by dibutyryl cyclic AMP (dbcAMP). The expression of cell surface cytokines (IL-3, IL-5, GM-CSF) receptors, adhesion molecules (CD49d, CD11b), and CD95 (Fas) was investigated by flow cytometry. Expression of eosinophilic cationic protein (ECP) was determined by fluorescence enzyme immunoassay (FEIA) and reverse transcription-polymerase chain reaction (RT-PCR). EoL-1 cells could be differentiated into eosinophilic vacuole-containing cells by dbcAMP. They were found to express cell surface IL-3 and GM-CSF receptors, CD95 and CD49d. Treatment with dbcAMP could induce the expression of CD11b but decrease the expression of CD95. Anti-CD95 antibody could induce their apoptosis. The differentiation of EoL-1 cells was accompanied by increase in release of ECP into the supernatant and total ECP synthesis. Differentiation of EoL-1 cells also up-regulated the expression of mRNA for ECP and its level was parallel to the total amount of ECP synthesis. By virtue of their expression of haematopoietic cytokines receptors, adhesion molecules, CD95, synthesis and release of ECP, EoL-1 cells are suitable as an in vitro eosinophilic model for studying eosinophilic functions.
- Published
- 1999
- Full Text
- View/download PDF
87. Severe hypokalemic myopathy in Gitelman's syndrome.
- Author
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Tang NL, Hui J, To KF, Ng HK, Hjelm NM, and Fok TF
- Subjects
- Child, Humans, Male, Syndrome, Bartter Syndrome complications, Hypokalemia complications, Muscular Diseases complications
- Published
- 1999
- Full Text
- View/download PDF
88. Quantitative analysis of cell-free Epstein-Barr virus DNA in plasma of patients with nasopharyngeal carcinoma.
- Author
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Lo YM, Chan LY, Lo KW, Leung SF, Zhang J, Chan AT, Lee JC, Hjelm NM, Johnson PJ, and Huang DP
- Subjects
- Herpesvirus 4, Human genetics, Herpesvirus 4, Human radiation effects, Humans, Nasopharyngeal Neoplasms pathology, Nasopharyngeal Neoplasms radiotherapy, Polymerase Chain Reaction, DNA, Viral blood, Herpesvirus 4, Human isolation & purification, Nasopharyngeal Neoplasms virology
- Abstract
Using real-time quantitative PCR, cell-free EBV DNA was detectable in the plasma of 96% (55 of 57) of nasopharyngeal carcinoma (NPC) patients (median concentration, 21058 copies/ml) and 7% (3 of 43) of controls (median concentration, 0 copies/ml). Advanced-stage NPC patients had higher plasma EBV DNA levels than those with early-stage disease. At 1 month after completion of radiotherapy, plasma EBV DNA was undetectable in 7 of 15 subjects (47%) but remained high in the remaining 8 subjects (53%). Clinical examination revealed that all of the former seven subjects had complete tumor regression, whereas six of the eight latter subjects exhibited evidence of disease persistence or had developed distant metastases. These results suggest that quantitative analysis of plasma EBV DNA may be a useful clinical and research tool in the screening and monitoring of NPC patients.
- Published
- 1999
89. Detection of aberrant p16 methylation in the plasma and serum of liver cancer patients.
- Author
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Wong IH, Lo YM, Zhang J, Liew CT, Ng MH, Wong N, Lai PB, Lau WY, Hjelm NM, and Johnson PJ
- Subjects
- Adult, Aged, Carcinoma, Hepatocellular blood, DNA Methylation, DNA, Neoplasm blood, Female, Humans, Liver Neoplasms blood, Male, Middle Aged, Biomarkers, Tumor, Carcinoma, Hepatocellular genetics, Cyclin-Dependent Kinase Inhibitor p16 genetics, DNA, Neoplasm genetics, Liver Neoplasms genetics
- Abstract
We have studied the feasibility of detecting tumor-associated aberrant p16 methylation in the circulation of patients with hepatocellular carcinoma (HCC). We extracted DNA from the tumor tissues and peripheral blood plasma or serum of 22 HCC patients. p16 methylation was found in 73% (16 of 22) of HCC tissues using methylation-specific PCR. Among the 16 cases with aberrant methylation in the tumor tissues, similar changes were also detected in the plasma/serum samples of 81% (13 of 16) of the cases. No methylated p16 sequences were detected in the peripheral plasma/serum of the six HCC cases without these changes in the tumor, in 38 patients with chronic hepatitis/cirrhosis, or in 10 healthy control subjects. These results suggest that circulating liver tumor DNA may be detected using tumor-associated DNA methylation changes. Because methylation abnormalities have been found in many other genes and tumor types, this approach may have implications for the noninvasive detection of a wide variety of cancers.
- Published
- 1999
90. Telemedicine: academic and professional aspects.
- Author
-
Hjelm NM
- Abstract
Doctors have recently gained substantial experience of using telemedical applications for consultations, education and training, and conferences. What is still lacking is systematic evaluation of these new approaches compared with traditional procedures. Trials involving consultations for diagnostic, monitoring, and interpretative purposes should be blinded and multicentred, and should include tests of patient satisfaction as well as macro-economic considerations. The quality of educational programmes and conferences should be documented and compared with traditional teaching methods. International standards need to be developed for such evaluations, to allow comparisons between trials performed at national and international levels. Hong Kong is in a good position to contribute to these developments because of a well-integrated health care system and excellent telecommunication facilities. Through telemedicine, Hong Kong could resume a leading global position in the use of advanced information technology.
- Published
- 1998
91. Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.
- Author
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Lam CW, But WM, Shek CC, Tong SF, Chan YS, Choy KW, Tse WY, Pang CP, and Hjelm NM
- Subjects
- Base Sequence, Female, Genetic Carrier Screening, Glycogen Storage Disease Type I epidemiology, Glycogen Storage Disease Type I ethnology, Homozygote, Hong Kong epidemiology, Humans, Infant, Male, Molecular Epidemiology, Pedigree, DNA genetics, Glucose-6-Phosphatase genetics, Glycogen Storage Disease Type I genetics, Mutation, RNA Splicing
- Abstract
Glycogen storage disease type la (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). We analyzed the G6Pase genes of two unrelated Chinese families with GSD1a. DNA sequencing of all five exons and the exon-intron boundaries revealed a G T transversion at nucleotide 727 (727G-->T) in exon 5, which has previously been reported to cause abnormal splicing. In one family, the subject and her affected sister were confirmed to be homozygous for this mutation and their parents to be heterozygotes. In the other family, the proband was identified to be heterozygous for this mutation, and a novel mutation, the 341delG in exon 2, was identified. This mutation alters the reading frame and creates a stop codon TAA 15 codons downstream from the mutation, resulting in a truncated protein. Family studies revealed that the father was heterozygous for the 727G-->T mutation and that the mother was heterozygous for the 341delG mutation. This is the first time that the 727G T mutation has been found in Chinese patients or outside Japan. Since we only tested two GSD1a families and found 727G-->T in both, we believe that this mutation may also be prevalent in our local Chinese population. To investigate allele frequencies, we screened 385 Chinese healthy volunteers and found two asymptomatic carriers. Our findings suggest that the 727G-->T mutation is indeed prevalent in Hong Kong.
- Published
- 1998
- Full Text
- View/download PDF
92. System approach for a multicenter, multilingual international telemedicine conference.
- Author
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Hjelm NM, Lee JC, Li AK, and Hazlett C
- Subjects
- Congresses as Topic organization & administration, Multilingualism, Telemedicine
- Abstract
Chinese Telemed 96, a three way international telemedicine conference was successfully held in November 1996. Over 1,000 physicians, allied health professional and medical students participated in this conference in Beijing, Hong Kong and London. This program demonstrated that the quality of telecommunication technology was suitable for the Chinese University of Hong Kong, Faculty of Medicine to use it in facilitating medical consultations and sharing expertise among widely dispersed colleagues. The consensus of Hong Kong participants was that the audiovideo and telecommunication technology used in this conference were adequate. In order to improve overall quality, however, a better co-ordination of the technical support across sites is required. Other felt that the conference suffers from the shortage of highly trained technical staff required to support the communication system. However, following the total evaluation of this conference, it is concluded that while technical support, site and location are important factors in a good telemedicine conference, a well run telemedicine conference is more dependent on a sound planning process and its execution.
- Published
- 1998
93. A radioimmunoassay of human prealbumin in body fluids.
- Author
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Cowley DM, Davey JF, and Hjelm NM
- Subjects
- Amniotic Fluid analysis, Body Fluids analysis, Duodenum analysis, Female, Humans, Immunoenzyme Techniques, Prealbumin cerebrospinal fluid, Pregnancy, Radioimmunoassay methods, Prealbumin analysis
- Abstract
Prealbumin (PA) was purified 35-fold from human serum and antibodies raised against it in rabbits. A 2-hour radioimmunoassay (RIA) using polyethyleneglycol (PEG) to separate bound and free PA was used to determine levels in body fluids. Using patient serum specimens the new method was compared with an electroimmunoassay (EIA) method and the regression equation obtained was: y = 1.13x - 9.91. The RIA and EIA methods compared favourably with respect to precision to practicability and economy. The RIA method seems especially suitable for large scale assays of PA and is 100 times more sensitive than EIA. Preliminary estimations of PA with the RIA method in plasma, cerebrospinal fluids, amniotic fluids, duodenal juices and urines were carried out. The results indicate that this method can be conveniently used to assay PA in body fluids where the protein is present in low concentration.
- Published
- 1983
- Full Text
- View/download PDF
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