Shirley Tse - Academia.edu (original) (raw)
Papers by Shirley Tse
The Journal of Rheumatology, Aug 15, 2021
Arthritis & Rheumatism, Jul 26, 2013
The patient, a 4-year-old girl with polyarticular juvenile idiopathic arthritis (antinuclear anti... more The patient, a 4-year-old girl with polyarticular juvenile idiopathic arthritis (antinuclear antibodies and rheumatoid factor were negative), received corticosteroid (triamcinolone hexacetonide) joint injections (in the right knee/ankle/subtalar, bilateral midfoot, and left second proximal interphalangeal joints) via ultrasound guidance. A cystic outpouching arising from the calcaneocuboid joint was accessed, and an ultrasound-guided injection was performed in real time using a color Doppler monitor. The procedure was uneventful. She developed bluish mottling of the lateral aspects of her right foot in the recovery room. There were no signs of ischemia or temperature changes, and her pulses were palpable. The discoloration would blanch under pressure and resolved when the foot was elevated. The patient was thought to have transient acrocyanosis and was discharged home with instructions to return if symptoms worsened. Two days later, the discoloration became fixed and expanded to the dorsum, lateral aspect, and sole of her right foot including her third, fourth, and fifth toes (left and right), with associated pain and hypersensitivity. The rash would blanch under pressure and was nonpalpable. Capillary refill was slightly delayed, but there were no signs of ischemia, atrophy, infection, or temperature changes. Her pulses remained palpable. The patient was otherwise well, and the other sites of joint injection were normal. The patient was referred to the plastic surgery department, and her presentation was attributed to an ischemic reaction because of corticosteroids entering a small arterial vessel in the foot, possibly due to inadvertent arterial puncture during insertion of the needle or retrograde passage through an artery in the joint capsule or synovial vessel due to increased pressure from the injection. One week later, with supportive treatment measures, the discoloration, discomfort, and hypersensitivity had resolved, and only 2 small healing areas of skin breakdown remained visible. No further intervention was needed, and the skin lesions fully healed within a week. Arterial embolization of steroids has been rarely reported, and in those cases, it was secondary to corticosteroid injection in the wrist (1-3).
Academic Medicine, Oct 27, 2020
Through our pilot work we identified an important organizing principle for IPC that relates to ac... more Through our pilot work we identified an important organizing principle for IPC that relates to acuity and the perceived complexity of the care required by a given patient. We conducted over 70 hours of observation and 40 semi-structured interviews with different health professionals in three different clinical contexts (emergency paediatric medicine, adult trauma care, and paediatric acute care) noting health professionals and trainees make decisions all the time about whom to listen to, whom to seek out when they need information, whom to pay attention to when problem-solving and whom to collaborate with in the completion of a particular task. These decisions affected the composition of 'team membership' in relation to a specific clinical problem. Moreover, the perceived acuity of a patient or the perceived complexity of a task, underpinned decisions related to team composition and tolerance for practices and behaviours that may or may not be associated with collaboration: "The extreme of such a situation would be a patient coding. Then there will be clearly a need for everyone's input, and there will be a decision to make things better, but again that's the acuity of the situation. Plus the fact that this is no place I would say to study the way I interact with people or [whether] my interprofessional attitude could change anything." (MD surgeon) Indeed, acuity and complexity were evoked as reasons to abandon aspects of what is promoted discursively as "good" team care in order to deliver the care patients actually needed, with statements that decoupled civility from problem solving. This nuance in the way health care
Pediatric Clinics of North America, Apr 1, 2012
The Journal of Pediatrics, Apr 1, 2002
coronary arteries and may lead to aneurysm formation, ischemic heart disease, and/or infarction. ... more coronary arteries and may lead to aneurysm formation, ischemic heart disease, and/or infarction. 5 Standard treatment for KD includes intravenous immunoglobulin (IVIG) and oral aspirin (ASA). Patients unresponsive to standard therapy may require additional doses of IVIG and/or corticosteroids (adjunctive therapy, ADJ). Kawasaki disease (KD) is a systemic vasculitis that occurs most commonly in children younger than 5 years of age. The inflammation involves small Early treatment with intravenous immunoglobulin in patients with Kawasaki disease
American Journal of Roentgenology, May 1, 2019
OBJECTIVE Accurate and reproducible MRI assessment of the sacroiliac joint (SIJ) is challenging. ... more OBJECTIVE Accurate and reproducible MRI assessment of the sacroiliac joint (SIJ) is challenging. Numerous scoring systems have been proposed to facilitate consistent SIJ assessment. The purpose of this article is to evaluate the diagnostic accuracy and reliability of existing MRI-based SIJ scoring systems for the evaluation of spondyloarthropathy. CONCLUSION Among existing methods, there is fair (grade B) evidence to recommend the Spondyloarthropathy Research Consortium of Canada scoring systems as tools for MRI evaluation of the SIJ. However, limited data on criterion validity limit assessment of scoring system accuracy.
Pediatric Rheumatology, May 27, 2013
Background: The limited availability of pediatric rheumatologists for teaching in pediatric resid... more Background: The limited availability of pediatric rheumatologists for teaching in pediatric residency programs negatively impacts resident education about rheumatology. At present, there are no educational websites available for trainees to learn about pediatric rheumatology. We are planning to develop an interactive web-based teaching module to improve resident learning about rheumatology ("POINTER": Pediatric Online INteractive TEaching in Rheumatology). The aim of this study was to perform a needs assessment of pediatric residents who will be using POINTER. Methods: Pediatric residents (n = 60) at The Hospital for Sick Children were emailed an online survey. This was designed to assess prior use of online teaching modules, the utility of an online teaching module for rheumatology and which technologies should be included on such a site. Results: Forty-seven residents participated in the survey (78.3% response rate). Ninety-one percent of the respondents thought that an interactive teaching website would enhance their learning and should include casebased teaching modules. Several web-based technologies were felt to be important for inclusion on the teaching modules. These included graphics and animation (86.4%), interactivity (93.2%), pictures (100%), live digital videos (88.9%) and links to articles and research (88.6%). Conclusions: An interactive web-based rheumatology teaching module would be well utilized by pediatric residents. Residents showed preference for case-based teaching modules as well as multimedia modalities for learning a detailed musculoskeletal examination.
Arthritis & rheumatology, May 1, 2015
The patient, a 14-year-old boy with type 1 Pfeiffer syndrome and a 2-month history of pain in the... more The patient, a 14-year-old boy with type 1 Pfeiffer syndrome and a 2-month history of pain in the fourth finger of his left hand, was referred to the rheumatology clinic. The patient presented at birth with craniosynostosis, hypertelorism, and brachydactyly. The geneticists diagnosed Pfeiffer syndrome, and gene testing confirmed a mutation in fibroblast growth factor receptor 1. His clinical history and disease course included hearing loss, initial speech delay (now resolved), dental problems, and malocclusion. In addition to his symptoms of finger pain, he also had intermittent subluxation of his left elbow and both shoulders due to congenital dislocations. Excluding joint pain, the patient denied any other symptoms of inflammatory arthritis. There was no family history of rheumatoid arthritis, ankylosing spondylitis, juvenile idiopathic arthritis, or psoriasis. The musculoskeletal physical examination was remarkable for short broad fingers and toes, decreased range of motion in both the first and second digits, and decreased range of motion in both elbows and shoulders. Radiographs of two views of the hands and wrists showed partial fusion at the first interphalangeal joints bilaterally and the second proximal interphalangeal (PIP) joint of the left hand. The second PIP joint of the right hand was completely fused. The proximal phalanges of the thumb and the middle phalanges of the second and fourth fingers were shortened bilaterally. Both thumbs were radially deviated. The metacarpal heads of both hands also appeared slightly diminutive. There was widening at the distal radioulnar joints, with the ulna appearing abnormally rotated on the frontal view bilaterally, which indicates instability at the radioulnar joint. Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that affects 1 in 100,000 persons. The syndrome is a result of mutations in fibroblast growth factor receptors 1 or 2 leading to gain-of-function altered cell differentiation, including bone cells. There is no association with an inflammatory or autoimmune mechanism. Musculoskeletal involvement in Pfeiffer syndrome is commonly associated with craniosynostosis, maxillary hypoplasia, broad and deviated thumbs and great toes, and partial syndactyly of the hands and feet in addition to joint fusion and ankylosis of small and large joints. The diagnosis of Pfeiffer syndrome is essentially clinical, but radiologic exploration can confirm the associated skeletal abnormalities (1–3). This patient was referred to the rheumatology clinic in order to rule out arthritis. Clinical examination did not reveal the typical findings of inflammatory arthritis but only the musculoskeletal findings described above. Although radiology provided no explanation for the pain in the fourth finger of his left hand, this digit may be in the early stages and a new site for bone formation and ultimate fusion. Serial radiographs can be helpful to document disease progression. Because the process is noninflammatory in nature, magnetic resonance imaging is not indicated. A review of the literature revealed no reported cases of arthritis with Pfeiffer syndrome. In summary, the musculoskeletal symptoms of Pfeiffer syndrome should be distinguished from those of true arthritis. Syndactyly and fused phalanges with decreased range of motion are well described and are representative of the musculoskeletal manifestations seen in this patient with Pfeiffer syndrome.
PubMed, Jun 1, 2006
Children with juvenile spondyloarthropathy, classified as enthesitis-related arthritis (ERA) unde... more Children with juvenile spondyloarthropathy, classified as enthesitis-related arthritis (ERA) under the International League of Associations for Rheumatology classification of juvenile idiopathic arthritis, usually experience both arthritis and enthesitis. Treatment with anti-tumor necrosis factor-alpha (TNF-alpha) agents has resulted in dramatic clinical improvement. Radiologic imaging methods useful in the detection, diagnosis, and grading of arthritis and enthesitis include magnetic resonance imaging and ultrasonography. We describe the serial radiologic improvements of arthritis and enthesitis in a child with ERA in response to treatment with the anti-TNF-alpha agent etanercept.
Background Children with juvenile idiopathic arthritis (JIA) who achieve a drug free remission of... more Background Children with juvenile idiopathic arthritis (JIA) who achieve a drug free remission often experience a flare of their disease requiring either intraarticular steroids (IAS) or systemic treatment with disease modifying anti-rheumatic drugs (DMARDs). IAS offer an opportunity to recapture disease control and avoid exposure to side effects from systemic immunosuppression. We examined a cohort of patients treated with IAS after drug free remission and report the probability of restarting systemic treatment within 12 months. Methods We analyzed a cohort of patients from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry who received IAS for a flare after a period of drug free remission. Historical factors and clinical characteristics and of the patients including data obtained at the time of treatment were analyzed. Results We identified 46 patients who met the inclusion criteria. Of those 49% had restarted systemic treatment 6 months after IAS injectio...
Arthritis Care & Research
ObjectiveChildren with well‐controlled juvenile idiopathic arthritis (JIA) frequently experience ... more ObjectiveChildren with well‐controlled juvenile idiopathic arthritis (JIA) frequently experience flares after medication discontinuation, but the outcomes of these flares have not been well described. The objective of this study was to characterize the rates and predictors of disease recapture among children with JIA who restarted medication to treat disease flare.MethodsChildren with JIA who discontinued conventional synthetic or biologic disease‐modifying antirheumatic drugs for well‐controlled disease but subsequently experienced a flare and restarted medication were identified from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) registry. The primary outcome was inactive disease (ID) (physician global assessment <1 and active joint count = 0) 6 months after flare.ResultsA total of 333 patients had complete data for ID at 6 months after flare. The recapture rate for the cohort was 55%, ranging from 47% (persistent oligoarthritis) to 69% (systemic arthritis) ...
The Journal of Rheumatology, 2020
ObjectiveThe purpose of this study was (1) to assess the interreader reliability in detecting and... more ObjectiveThe purpose of this study was (1) to assess the interreader reliability in detecting and scoring the inflammatory bone lesions in pediatric patients with chronic nonbacterial osteomyelitis (CNO) by using whole-body magnetic resonance imaging (WB-MRI), and (2) to evaluate the responsiveness of the MRI-detected CNO lesions to pamidronate therapy.MethodsEighty-eight WB-MRI examinations were independently reviewed and scored by 2 radiologists blinded to clinical details in 32 retrospectively enrolled pediatric patients with CNO. Inflammatory bone lesions, soft tissue abnormality, and bony structural changes were scored before and after pamidronate therapy. Lesion responsiveness was calculated by using standardized response mean and interreader reliability was assessed by k statistics.ResultsThere was good to excellent interreader agreement for the detection and quantification of bone lesions. After the first cycle of pamidronate in all 32 patients, 96 of the 279 lesions (34%; a...
Seminars in Arthritis and Rheumatism, 2021
OBJECTIVES Whole body-MRI is helpful in directing diagnostic and treatment approaches, and as a r... more OBJECTIVES Whole body-MRI is helpful in directing diagnostic and treatment approaches, and as a research outcome measure. We describe our initial consensus-driven phase towards developing a whole body-MRI scoring system for juvenile idiopathic arthritis. METHODS An iterative approach using three rounds of anonymous Delphi surveys followed by a consensus meeting was used to draft the structure of the whole body-MRI scoring system, including the relevant anatomic joints and entheses for assessment, diagnostic item selection, definition and grading, and selection of appropriate MRI planes and sequences. The surveys were completed independently by an international expert group consisting of pediatric radiologists and rheumatologists. RESULTS Twenty-two experts participated in at least one of three rounds of Delphi surveys and a concluding consensus meeting. A first iteration scoring system was developed which ultimately included the assessment of 100 peripheral, 23 chest, and 76 axial joints, and 64 entheses, with 2-4 diagnostic items graded in each of the items, using binary (presence/absence) and 2-3-level ordinal scores. Recommendations on anatomic MRI planes and sequences were specified as the minimally necessary imaging protocol for the scoring system. CONCLUSION A novel whole body-MRI scoring system for juvenile idiopathic arthritis was developed by consensus among members of MRI in JIA OMERACT working group. Further iterative refinements, reliability testing, and responsiveness are warranted in upcoming studies.
Rheumatology, 2019
Objective To identify early predictors of disease activity at 18 months in JIA using clinical and... more Objective To identify early predictors of disease activity at 18 months in JIA using clinical and biomarker profiling. Methods Clinical and biomarker data were collected at JIA diagnosis in a prospective longitudinal inception cohort of 82 children with non-systemic JIA, and their ability to predict an active joint count of 0, a physician global assessment of disease activity of ≤1 cm, and inactive disease by Wallace 2004 criteria 18 months later was assessed. Correlation-based feature selection and ReliefF were used to shortlist predictors and random forest models were trained to predict outcomes. Results From the original 112 features, 13 effectively predicted 18-month outcomes. They included age, number of active/effused joints, wrist, ankle and/or knee involvement, ESR, ANA positivity and plasma levels of five inflammatory biomarkers (IL-10, IL-17, IL-12p70, soluble low-density lipoprotein receptor-related protein 1 and vitamin D), at enrolment. The clinical plus biomarker panel...
The Journal of Rheumatology
Monoarthritis warrants a broad differential diagnosis including trauma, infection, malignancy, an... more Monoarthritis warrants a broad differential diagnosis including trauma, infection, malignancy, and hemarthrosis.1 Most children with hemophilia are diagnosed before age 2 years, with hemarthrosis typically occurring 1–2 years after bleeding into the soft tissues, skin, and mucosa.2
6/47 yes: all primary outcomes were signi cantly better in intervention group vs control partly: ... more 6/47 yes: all primary outcomes were signi cantly better in intervention group vs control partly: SOME primary outcomes were signi cantly better in intervention group vs control no statistically signi cant difference between control and intervention potentially harmful: control was signi cantly better than intervention in one or more outcomes
Arthritis & Rheumatism, 2017
Background/Purpose: Juvenile Idiopathic Arthritis (JIA) is a common chronic illness in childhood.... more Background/Purpose: Juvenile Idiopathic Arthritis (JIA) is a common chronic illness in childhood. The responsibility of JIA management during the younger years is shared among family members. However, many families do not receive comprehensive JIA education and coping skills training, which can negatively impact health-related quality of life (HRQL). Evidence supports psycho-educational treatments to improve health outcomes in children with JIA but no program has been developed to meet the needs of 7 to 12-year-old children. The aim of this research is to evaluate the feasibility of a bilingual (English and French) interactive, Internet-based psycho-educational game for children with JIA. Methods: A pilot randomized controlled trial (RCT) design with a usual care control group is underway (target n = 120). Recruitment is ongoing at four Canadian pediatric tertiary care centres and three additional centres will start upon completion of study setup. After informed consent is obtained and baseline questionnaires are completed, participants are randomized. Over the 8-week study period, participants in the experimental group are asked to download the game onto a personal device (i.e., computer or iPad) and interact with the game daily. Participants in the control group receive usual care and are offered the program after post-study. Parents of participants in both groups receive access to the ‘JIA Resource Centre’. Post-study questionnaires are completed following 8-weeks. Implementation outcomes are analyzed using descriptive statistics. Results: To date, 57 participant dyads have enrolled in the study. Of these, 30 have completed the study, 24 are currently in progress, and 3 have dropped out. Reasons for dropping out included, failure to download the game due to technical difficulties (1 dyad) or lack of time (2 dyads). On average, dyads have taken 7.8 (SD = 6.5) days to download the game. Additional directions or prompts for families to download the game was required from the team for 61.3% (n = 19) of intervention participants and of these, the team contacted dyads an average of 5.4 (SD = 3.6) times before the download was successful. For 22.6% (n = 7), a change of device type was required for a successful download. On average, participants have gotten through 31.2% of game content at the end of 8-weeks. Participants were contacted at the 2-week mark (40.9%) and 5-week mark (78.9%) during the study period to follow-up on the lower than expected progress in the game. The response to the intervention has been mostly positive, however, some participants indicated that the level of difficulty was either “too easy” or “too hard” and some considered it too repetitive. Participants appreciated that a game had been developed for their disease population. Conclusion: The feasibility of this intervention would benefit from an easier distribution procedure as well as compatibility of the game across more platforms (i.e., older iPad versions). The level of difficulty could be better suited if tailored to the child’s age. Next steps include development of a tutorial to assist younger participants. Upon completion of data collection, preliminary effectiveness outcomes will be analyzed
The Journal of Rheumatology, Aug 15, 2021
Arthritis & Rheumatism, Jul 26, 2013
The patient, a 4-year-old girl with polyarticular juvenile idiopathic arthritis (antinuclear anti... more The patient, a 4-year-old girl with polyarticular juvenile idiopathic arthritis (antinuclear antibodies and rheumatoid factor were negative), received corticosteroid (triamcinolone hexacetonide) joint injections (in the right knee/ankle/subtalar, bilateral midfoot, and left second proximal interphalangeal joints) via ultrasound guidance. A cystic outpouching arising from the calcaneocuboid joint was accessed, and an ultrasound-guided injection was performed in real time using a color Doppler monitor. The procedure was uneventful. She developed bluish mottling of the lateral aspects of her right foot in the recovery room. There were no signs of ischemia or temperature changes, and her pulses were palpable. The discoloration would blanch under pressure and resolved when the foot was elevated. The patient was thought to have transient acrocyanosis and was discharged home with instructions to return if symptoms worsened. Two days later, the discoloration became fixed and expanded to the dorsum, lateral aspect, and sole of her right foot including her third, fourth, and fifth toes (left and right), with associated pain and hypersensitivity. The rash would blanch under pressure and was nonpalpable. Capillary refill was slightly delayed, but there were no signs of ischemia, atrophy, infection, or temperature changes. Her pulses remained palpable. The patient was otherwise well, and the other sites of joint injection were normal. The patient was referred to the plastic surgery department, and her presentation was attributed to an ischemic reaction because of corticosteroids entering a small arterial vessel in the foot, possibly due to inadvertent arterial puncture during insertion of the needle or retrograde passage through an artery in the joint capsule or synovial vessel due to increased pressure from the injection. One week later, with supportive treatment measures, the discoloration, discomfort, and hypersensitivity had resolved, and only 2 small healing areas of skin breakdown remained visible. No further intervention was needed, and the skin lesions fully healed within a week. Arterial embolization of steroids has been rarely reported, and in those cases, it was secondary to corticosteroid injection in the wrist (1-3).
Academic Medicine, Oct 27, 2020
Through our pilot work we identified an important organizing principle for IPC that relates to ac... more Through our pilot work we identified an important organizing principle for IPC that relates to acuity and the perceived complexity of the care required by a given patient. We conducted over 70 hours of observation and 40 semi-structured interviews with different health professionals in three different clinical contexts (emergency paediatric medicine, adult trauma care, and paediatric acute care) noting health professionals and trainees make decisions all the time about whom to listen to, whom to seek out when they need information, whom to pay attention to when problem-solving and whom to collaborate with in the completion of a particular task. These decisions affected the composition of 'team membership' in relation to a specific clinical problem. Moreover, the perceived acuity of a patient or the perceived complexity of a task, underpinned decisions related to team composition and tolerance for practices and behaviours that may or may not be associated with collaboration: "The extreme of such a situation would be a patient coding. Then there will be clearly a need for everyone's input, and there will be a decision to make things better, but again that's the acuity of the situation. Plus the fact that this is no place I would say to study the way I interact with people or [whether] my interprofessional attitude could change anything." (MD surgeon) Indeed, acuity and complexity were evoked as reasons to abandon aspects of what is promoted discursively as "good" team care in order to deliver the care patients actually needed, with statements that decoupled civility from problem solving. This nuance in the way health care
Pediatric Clinics of North America, Apr 1, 2012
The Journal of Pediatrics, Apr 1, 2002
coronary arteries and may lead to aneurysm formation, ischemic heart disease, and/or infarction. ... more coronary arteries and may lead to aneurysm formation, ischemic heart disease, and/or infarction. 5 Standard treatment for KD includes intravenous immunoglobulin (IVIG) and oral aspirin (ASA). Patients unresponsive to standard therapy may require additional doses of IVIG and/or corticosteroids (adjunctive therapy, ADJ). Kawasaki disease (KD) is a systemic vasculitis that occurs most commonly in children younger than 5 years of age. The inflammation involves small Early treatment with intravenous immunoglobulin in patients with Kawasaki disease
American Journal of Roentgenology, May 1, 2019
OBJECTIVE Accurate and reproducible MRI assessment of the sacroiliac joint (SIJ) is challenging. ... more OBJECTIVE Accurate and reproducible MRI assessment of the sacroiliac joint (SIJ) is challenging. Numerous scoring systems have been proposed to facilitate consistent SIJ assessment. The purpose of this article is to evaluate the diagnostic accuracy and reliability of existing MRI-based SIJ scoring systems for the evaluation of spondyloarthropathy. CONCLUSION Among existing methods, there is fair (grade B) evidence to recommend the Spondyloarthropathy Research Consortium of Canada scoring systems as tools for MRI evaluation of the SIJ. However, limited data on criterion validity limit assessment of scoring system accuracy.
Pediatric Rheumatology, May 27, 2013
Background: The limited availability of pediatric rheumatologists for teaching in pediatric resid... more Background: The limited availability of pediatric rheumatologists for teaching in pediatric residency programs negatively impacts resident education about rheumatology. At present, there are no educational websites available for trainees to learn about pediatric rheumatology. We are planning to develop an interactive web-based teaching module to improve resident learning about rheumatology ("POINTER": Pediatric Online INteractive TEaching in Rheumatology). The aim of this study was to perform a needs assessment of pediatric residents who will be using POINTER. Methods: Pediatric residents (n = 60) at The Hospital for Sick Children were emailed an online survey. This was designed to assess prior use of online teaching modules, the utility of an online teaching module for rheumatology and which technologies should be included on such a site. Results: Forty-seven residents participated in the survey (78.3% response rate). Ninety-one percent of the respondents thought that an interactive teaching website would enhance their learning and should include casebased teaching modules. Several web-based technologies were felt to be important for inclusion on the teaching modules. These included graphics and animation (86.4%), interactivity (93.2%), pictures (100%), live digital videos (88.9%) and links to articles and research (88.6%). Conclusions: An interactive web-based rheumatology teaching module would be well utilized by pediatric residents. Residents showed preference for case-based teaching modules as well as multimedia modalities for learning a detailed musculoskeletal examination.
Arthritis & rheumatology, May 1, 2015
The patient, a 14-year-old boy with type 1 Pfeiffer syndrome and a 2-month history of pain in the... more The patient, a 14-year-old boy with type 1 Pfeiffer syndrome and a 2-month history of pain in the fourth finger of his left hand, was referred to the rheumatology clinic. The patient presented at birth with craniosynostosis, hypertelorism, and brachydactyly. The geneticists diagnosed Pfeiffer syndrome, and gene testing confirmed a mutation in fibroblast growth factor receptor 1. His clinical history and disease course included hearing loss, initial speech delay (now resolved), dental problems, and malocclusion. In addition to his symptoms of finger pain, he also had intermittent subluxation of his left elbow and both shoulders due to congenital dislocations. Excluding joint pain, the patient denied any other symptoms of inflammatory arthritis. There was no family history of rheumatoid arthritis, ankylosing spondylitis, juvenile idiopathic arthritis, or psoriasis. The musculoskeletal physical examination was remarkable for short broad fingers and toes, decreased range of motion in both the first and second digits, and decreased range of motion in both elbows and shoulders. Radiographs of two views of the hands and wrists showed partial fusion at the first interphalangeal joints bilaterally and the second proximal interphalangeal (PIP) joint of the left hand. The second PIP joint of the right hand was completely fused. The proximal phalanges of the thumb and the middle phalanges of the second and fourth fingers were shortened bilaterally. Both thumbs were radially deviated. The metacarpal heads of both hands also appeared slightly diminutive. There was widening at the distal radioulnar joints, with the ulna appearing abnormally rotated on the frontal view bilaterally, which indicates instability at the radioulnar joint. Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that affects 1 in 100,000 persons. The syndrome is a result of mutations in fibroblast growth factor receptors 1 or 2 leading to gain-of-function altered cell differentiation, including bone cells. There is no association with an inflammatory or autoimmune mechanism. Musculoskeletal involvement in Pfeiffer syndrome is commonly associated with craniosynostosis, maxillary hypoplasia, broad and deviated thumbs and great toes, and partial syndactyly of the hands and feet in addition to joint fusion and ankylosis of small and large joints. The diagnosis of Pfeiffer syndrome is essentially clinical, but radiologic exploration can confirm the associated skeletal abnormalities (1–3). This patient was referred to the rheumatology clinic in order to rule out arthritis. Clinical examination did not reveal the typical findings of inflammatory arthritis but only the musculoskeletal findings described above. Although radiology provided no explanation for the pain in the fourth finger of his left hand, this digit may be in the early stages and a new site for bone formation and ultimate fusion. Serial radiographs can be helpful to document disease progression. Because the process is noninflammatory in nature, magnetic resonance imaging is not indicated. A review of the literature revealed no reported cases of arthritis with Pfeiffer syndrome. In summary, the musculoskeletal symptoms of Pfeiffer syndrome should be distinguished from those of true arthritis. Syndactyly and fused phalanges with decreased range of motion are well described and are representative of the musculoskeletal manifestations seen in this patient with Pfeiffer syndrome.
PubMed, Jun 1, 2006
Children with juvenile spondyloarthropathy, classified as enthesitis-related arthritis (ERA) unde... more Children with juvenile spondyloarthropathy, classified as enthesitis-related arthritis (ERA) under the International League of Associations for Rheumatology classification of juvenile idiopathic arthritis, usually experience both arthritis and enthesitis. Treatment with anti-tumor necrosis factor-alpha (TNF-alpha) agents has resulted in dramatic clinical improvement. Radiologic imaging methods useful in the detection, diagnosis, and grading of arthritis and enthesitis include magnetic resonance imaging and ultrasonography. We describe the serial radiologic improvements of arthritis and enthesitis in a child with ERA in response to treatment with the anti-TNF-alpha agent etanercept.
Background Children with juvenile idiopathic arthritis (JIA) who achieve a drug free remission of... more Background Children with juvenile idiopathic arthritis (JIA) who achieve a drug free remission often experience a flare of their disease requiring either intraarticular steroids (IAS) or systemic treatment with disease modifying anti-rheumatic drugs (DMARDs). IAS offer an opportunity to recapture disease control and avoid exposure to side effects from systemic immunosuppression. We examined a cohort of patients treated with IAS after drug free remission and report the probability of restarting systemic treatment within 12 months. Methods We analyzed a cohort of patients from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry who received IAS for a flare after a period of drug free remission. Historical factors and clinical characteristics and of the patients including data obtained at the time of treatment were analyzed. Results We identified 46 patients who met the inclusion criteria. Of those 49% had restarted systemic treatment 6 months after IAS injectio...
Arthritis Care & Research
ObjectiveChildren with well‐controlled juvenile idiopathic arthritis (JIA) frequently experience ... more ObjectiveChildren with well‐controlled juvenile idiopathic arthritis (JIA) frequently experience flares after medication discontinuation, but the outcomes of these flares have not been well described. The objective of this study was to characterize the rates and predictors of disease recapture among children with JIA who restarted medication to treat disease flare.MethodsChildren with JIA who discontinued conventional synthetic or biologic disease‐modifying antirheumatic drugs for well‐controlled disease but subsequently experienced a flare and restarted medication were identified from the Childhood Arthritis and Rheumatology Research Alliance (CARRA) registry. The primary outcome was inactive disease (ID) (physician global assessment <1 and active joint count = 0) 6 months after flare.ResultsA total of 333 patients had complete data for ID at 6 months after flare. The recapture rate for the cohort was 55%, ranging from 47% (persistent oligoarthritis) to 69% (systemic arthritis) ...
The Journal of Rheumatology, 2020
ObjectiveThe purpose of this study was (1) to assess the interreader reliability in detecting and... more ObjectiveThe purpose of this study was (1) to assess the interreader reliability in detecting and scoring the inflammatory bone lesions in pediatric patients with chronic nonbacterial osteomyelitis (CNO) by using whole-body magnetic resonance imaging (WB-MRI), and (2) to evaluate the responsiveness of the MRI-detected CNO lesions to pamidronate therapy.MethodsEighty-eight WB-MRI examinations were independently reviewed and scored by 2 radiologists blinded to clinical details in 32 retrospectively enrolled pediatric patients with CNO. Inflammatory bone lesions, soft tissue abnormality, and bony structural changes were scored before and after pamidronate therapy. Lesion responsiveness was calculated by using standardized response mean and interreader reliability was assessed by k statistics.ResultsThere was good to excellent interreader agreement for the detection and quantification of bone lesions. After the first cycle of pamidronate in all 32 patients, 96 of the 279 lesions (34%; a...
Seminars in Arthritis and Rheumatism, 2021
OBJECTIVES Whole body-MRI is helpful in directing diagnostic and treatment approaches, and as a r... more OBJECTIVES Whole body-MRI is helpful in directing diagnostic and treatment approaches, and as a research outcome measure. We describe our initial consensus-driven phase towards developing a whole body-MRI scoring system for juvenile idiopathic arthritis. METHODS An iterative approach using three rounds of anonymous Delphi surveys followed by a consensus meeting was used to draft the structure of the whole body-MRI scoring system, including the relevant anatomic joints and entheses for assessment, diagnostic item selection, definition and grading, and selection of appropriate MRI planes and sequences. The surveys were completed independently by an international expert group consisting of pediatric radiologists and rheumatologists. RESULTS Twenty-two experts participated in at least one of three rounds of Delphi surveys and a concluding consensus meeting. A first iteration scoring system was developed which ultimately included the assessment of 100 peripheral, 23 chest, and 76 axial joints, and 64 entheses, with 2-4 diagnostic items graded in each of the items, using binary (presence/absence) and 2-3-level ordinal scores. Recommendations on anatomic MRI planes and sequences were specified as the minimally necessary imaging protocol for the scoring system. CONCLUSION A novel whole body-MRI scoring system for juvenile idiopathic arthritis was developed by consensus among members of MRI in JIA OMERACT working group. Further iterative refinements, reliability testing, and responsiveness are warranted in upcoming studies.
Rheumatology, 2019
Objective To identify early predictors of disease activity at 18 months in JIA using clinical and... more Objective To identify early predictors of disease activity at 18 months in JIA using clinical and biomarker profiling. Methods Clinical and biomarker data were collected at JIA diagnosis in a prospective longitudinal inception cohort of 82 children with non-systemic JIA, and their ability to predict an active joint count of 0, a physician global assessment of disease activity of ≤1 cm, and inactive disease by Wallace 2004 criteria 18 months later was assessed. Correlation-based feature selection and ReliefF were used to shortlist predictors and random forest models were trained to predict outcomes. Results From the original 112 features, 13 effectively predicted 18-month outcomes. They included age, number of active/effused joints, wrist, ankle and/or knee involvement, ESR, ANA positivity and plasma levels of five inflammatory biomarkers (IL-10, IL-17, IL-12p70, soluble low-density lipoprotein receptor-related protein 1 and vitamin D), at enrolment. The clinical plus biomarker panel...
The Journal of Rheumatology
Monoarthritis warrants a broad differential diagnosis including trauma, infection, malignancy, an... more Monoarthritis warrants a broad differential diagnosis including trauma, infection, malignancy, and hemarthrosis.1 Most children with hemophilia are diagnosed before age 2 years, with hemarthrosis typically occurring 1–2 years after bleeding into the soft tissues, skin, and mucosa.2
6/47 yes: all primary outcomes were signi cantly better in intervention group vs control partly: ... more 6/47 yes: all primary outcomes were signi cantly better in intervention group vs control partly: SOME primary outcomes were signi cantly better in intervention group vs control no statistically signi cant difference between control and intervention potentially harmful: control was signi cantly better than intervention in one or more outcomes
Arthritis & Rheumatism, 2017
Background/Purpose: Juvenile Idiopathic Arthritis (JIA) is a common chronic illness in childhood.... more Background/Purpose: Juvenile Idiopathic Arthritis (JIA) is a common chronic illness in childhood. The responsibility of JIA management during the younger years is shared among family members. However, many families do not receive comprehensive JIA education and coping skills training, which can negatively impact health-related quality of life (HRQL). Evidence supports psycho-educational treatments to improve health outcomes in children with JIA but no program has been developed to meet the needs of 7 to 12-year-old children. The aim of this research is to evaluate the feasibility of a bilingual (English and French) interactive, Internet-based psycho-educational game for children with JIA. Methods: A pilot randomized controlled trial (RCT) design with a usual care control group is underway (target n = 120). Recruitment is ongoing at four Canadian pediatric tertiary care centres and three additional centres will start upon completion of study setup. After informed consent is obtained and baseline questionnaires are completed, participants are randomized. Over the 8-week study period, participants in the experimental group are asked to download the game onto a personal device (i.e., computer or iPad) and interact with the game daily. Participants in the control group receive usual care and are offered the program after post-study. Parents of participants in both groups receive access to the ‘JIA Resource Centre’. Post-study questionnaires are completed following 8-weeks. Implementation outcomes are analyzed using descriptive statistics. Results: To date, 57 participant dyads have enrolled in the study. Of these, 30 have completed the study, 24 are currently in progress, and 3 have dropped out. Reasons for dropping out included, failure to download the game due to technical difficulties (1 dyad) or lack of time (2 dyads). On average, dyads have taken 7.8 (SD = 6.5) days to download the game. Additional directions or prompts for families to download the game was required from the team for 61.3% (n = 19) of intervention participants and of these, the team contacted dyads an average of 5.4 (SD = 3.6) times before the download was successful. For 22.6% (n = 7), a change of device type was required for a successful download. On average, participants have gotten through 31.2% of game content at the end of 8-weeks. Participants were contacted at the 2-week mark (40.9%) and 5-week mark (78.9%) during the study period to follow-up on the lower than expected progress in the game. The response to the intervention has been mostly positive, however, some participants indicated that the level of difficulty was either “too easy” or “too hard” and some considered it too repetitive. Participants appreciated that a game had been developed for their disease population. Conclusion: The feasibility of this intervention would benefit from an easier distribution procedure as well as compatibility of the game across more platforms (i.e., older iPad versions). The level of difficulty could be better suited if tailored to the child’s age. Next steps include development of a tutorial to assist younger participants. Upon completion of data collection, preliminary effectiveness outcomes will be analyzed