Healthcare transition from childhood to adulthood in pseudoxanthoma elasticum: Patient experience and recommendations for health practitioners.

PURPOSE: Health-care transition (HCT) is a necessary part of the care process for allsick adolescents, to allow their empowerment while limiting disruption to follow-up care. Pseudoxanthoma elasticum (PXE) runs the risk of losing patients to follow-up because young patients are predominantly asymptomatic. This can be detrimental as it can prevent primary prevention measures from being properly implemented. The purpose of this study was to assess satisfaction of PXE patients with their health-care transition and to identify the factors associated with its success, in order to improve care management in young PXE patients. METHODS: Patients aged 22 to 40 years diagnosed with PXE before the age of 16 years were included from the cohort of patients followed at Angers University Hospital. They were sent a questionnaire for the purposes of collecting data on medical management during adolescence, transition and adulthood. RESULTS: Eleven responses were obtained from the 21 patients surveyed. The median satisfaction score of PXE patients regarding their transition was 5/10. Three patients reported having discontinued follow-up after transition. In adulthood, the majority of the participants were followed up by 4 specialists as recommended. It was incumbent on 50% of the patients who changed doctors to provide details of their own medical history to the new practitioner. CONCLUSION: Better intra-practitioner communication and a chart summarizing the principles of primary prevention, optimal follow-up care and its frequency are simple to implement and in all likelihood result in better health-care transition for young PXE patients.

Gaussian Process Regression (GPR) Representation in Predictive Model Markup Language (PMML).

This paper describes Gaussian process regression (GPR) models presented in predictive model markup language (PMML). PMML is an extensible-markup-language (XML) -based standard language used to represent data-mining and predictive analytic models, as well as pre- and post-processed data. The previous PMML version, PMML 4.2, did not provide capabilities for representing probabilistic (stochastic) machine-learning algorithms that are widely used for constructing predictive models taking the associated uncertainties into consideration. The newly released PMML version 4.3, which includes the GPR model, provides new features: confidence bounds and distribution for the predictive estimations. Both features are needed to establish the foundation for uncertainty quantification analysis. Among various probabilistic machine-learning algorithms, GPR has been widely used for approximating a target function because of its capability of representing complex input and output relationships without predefining a set of basis functions, and predicting a target output with uncertainty quantification. GPR is being employed to various manufacturing data-analytics applications, which necessitates representing this model in a standardized form for easy and rapid employment. In this paper, we present a GPR model and its representation in PMML. Furthermore, we demonstrate a prototype using a real data set in the manufacturing domain.

[Diagnosis and therapeutic usefulness of ultrasonography in unusual gout]. / Intérêt de l'échographie ostéo-articulaire dans le diagnostic et le traitement des arthropathies goutteuses atypiques.

We report a 72-year-old patient who presented with a third metacarpo-phalangeal arthritis of unknown origin. Ultrasonography proved to be useful to the diagnosis of gout and to initiate therapy with allopurinol in the presence of erosions. This observation adds evidence to recent reports that using a specific semiology, ultrasonography could be useful to distinguish gout from pseudo-gout.

[Arthritis without urethritis: remember gonococcus]. / Arthrite sans urétrite: penser au gonocoque.

INTRODUCTION: Septic arthritis caused by Neisseria gonorrhoeae is mono or pauciarticular. They represent a nonrare cause of arthritis in sexually active adults. He is necessary to think of it even in the absence of urethritis. EXEGESIS: We report the case of gonococcal arthritis without urethritis in a young man associated with positive synovial fluid culture and negative blood cultures. CONCLUSION: Prompt recognition and treatment of this disease results in cure without aftereffects. The finding of penicillin-resistant organisms reinforces recent recommendations that advanced-generation cephalosporin must be used as initial therapy.

[Osteo-articular tuberculosis and postpartum: a casual association?]. / Tuberculose ostéo-articulaire et post-partum: une association fortuite ?

INTRODUCTION: Most cases of active tuberculosis in France are due to a recurrence of latent tuberculosis. It seems that immunorestitution during the postpartum can contribute to the return of latent tuberculosis. EXEGESIS: We report three observations of Mycobacterium tuberculosis osteo-articular infections (two Pott's diseases and one sterno-clavicular arthritis) occurring during the postpartum of women non infected by HIV. Two patients need a surgical treatment. The response to standard tuberculous treatment was favourable and all patients were cured. CONCLUSION: One must consider osteo-articular tuberculosis when a patient is suffering from osseous pains not proving reliable during the postpartum. We must remind ourselves of the relationships between tuberculosis and postpartum as well as the necessity to the threat both mother and child. Additional epidemiological studies should be realised. It appears necessary to increase in France measures for tracking tuberculosis in particularly about the latent forms.

Laterally elevated wedged insoles in the treatment of medial knee osteoarthritis. A two-year prospective randomized controlled study.

OBJECTIVE: To compare the clinical effects of laterally wedged insoles and neutrally wedged insoles (used as control) in patients with medial femoro-tibial knee osteoarthritis. STUDY DESIGN: 24-month prospective randomized controlled study. PATIENTS: Outpatients with painful medial femoro-tibial knee osteoarthritis. OUTCOME MEASURES: Patient's overall assessment of disease activity (5 grade scale), WOMAC index subscales and concomitant treatments. STATISTICAL ANALYSIS: Performed as an intention-to-treat analysis, with the last observation carried forward (LOCF). Main symptomatic criterion: Improvement in the patient's assessment of activity (defined as a reduction of one grade or more at the end of the study as compared to baseline, and no intra-articular injection or lavage during the 6 months previous to the last visit). Secondary criteria for assessment: (a) Changes in the WOMAC subscales at month 24, and (b) concomitant therapies (analgesics, NSAIDs and intra-articular injections or lavages). Structural criterion: Joint space width (JSW) at the narrowest point. Non-compliance was defined as intermittent or lack of insole fitting at two consecutive visits. Compliance within groups was compared by using a life table analysis technique (Log-Rank). RESULTS: The baseline characteristics of the 156 recruited patients (41 males, 115 females, mean age 64.8 years) were not different in the 2 treatment groups. At year 2, there was no statistically significant difference between the 2 groups concerning the percentages of patients with improvement in both global assessment of disease activity and in WOMAC subscales (pain, stiffness, function). The number of days with NSAIDs intake was lower in the group with laterally wedged insoles than in the neutrally wedged group (71+/-173 days vs. 127+/-193 days, P=0.003, Mann-Whitney test). The mean joint space narrowing rate did not differ between the two groups: 0.21+/-0.59 mm/year in the laterally wedged group vs 0.12+/-0.32 mm/year in the neutrally wedged group. Compliance and tolerance were satisfactory. Compliance was different between the 2 groups at month 24, with a greater frequency of patients who wore insoles permanently in the laterally wedged insole group than in the other group (85.8% vs 71.9%, P=0.023). CONCLUSION: This study failed to demonstrate a relevant symptomatic and/or structural effect of laterally-wedged insoles in medial femoro-tibial OA. However, the reduced NSAIDs intake and the better compliance in the treatment group are in favor of a beneficial effect of laterally-wedged insoles in medial femoro-tibial OA.

[Hip arthroplasty in genetic hemochromatosis. Report of 5 cases]. / L'atteinte coxofémorale dans l'hémochromatose génétique. A propos de cinq observations.

INTRODUCTION: Half of the patients with genetic hemochromatosis will have arthritis. Two of these articular involvements are well-known: the arthropathy involving the phalangeal and the metacarpophalangeal joints of the hand, useful for diagnosis, and hip arthropathy. Iron deposits seem to be involved in articular cartilage destruction. EXEGESIS: We report five cases of patients with hemochromatosis hip involvement. Hip arthropathy revealed hemochromatosis in one case and appeared despite efficient phlebotomies in another case. Three of these patients required hip arthroplasty. CONCLUSION: Hip arthropathy remains a frequent but unknown event in genetic hemochromatosis (12.5%) and it involves the functional prognosis.

Laterally elevated wedged insoles in the treatment of medial knee osteoarthritis: a prospective randomized controlled study.

OBJECTIVE: To compare the clinical effects of laterally wedged insoles and neutrally wedged insoles (used as control) in patients with medial femoro-tibial knee osteoarthritis (OA). DESIGN: 6-month prospective randomized controlled study. PATIENTS: outpatients with painful medial femoro-tibial knee OA. OUTCOME MEASURES: patient's overall assessment of disease activity (5 grade scale), WOMAC index subscales and concomitant treatments. STATISTICAL ANALYSIS: Performed as an intention-to-treat analysis. Main criterion: improvement in the patient's assessment of activity (defined as a reduction of 1 grade or more at month 6 compared to baseline, and no intraarticular injection or lavage during the study). Secondary criteria for assessment: (a) improvement in the patient's assessment of activity at months 1 and 3 compared to baseline, (b) improvement in the WOMAC subscales at months 1, 3 and 6, compared to baseline (defined as an improvement of at least 30%, and no intraarticular injection or lavage during the study) and (c) concomitant therapies (analgesics and NSAIDs). RESULTS: The baseline characteristics of the 156 recruited patients (41 males, 115 females, mean age 64.8 years) were not different in the two treatment groups. At months 1, 3 and 6 the percentages of patients with improvement in assessment of disease activity, in WOMAC pain, joint stiffness, and physical functioning subscales were similar in the two groups. The number of days with NSAIDs intake during the previous 3 months was decreased at month 6 compared with baseline in the group furnished with laterally wedged insoles (14.1 days+/-28 vs 9.9 days+/-27, P=0.04, Wilcoxon paired test), while it remained unchanged in the other group (15.5 days+/-24 vs 15+/-28, P=0.56). Compliance and tolerance were satisfactory. Compliance was different between the two groups at month 6, with a greater frequency of patients who wore insoles permanently in the laterally wedged insole group than in the other group (87.8% vs 74.3%;P=0.032). CONCLUSION: This study failed to demonstrate a relevant short-term symptomatic effect of laterally-wedged insoles in medial femoro-tibial OA. However, the decrease in NSAIDs consumption together with better compliance in the treated group are in favor of a beneficial effect of laterally-wedged insoles in medial femoro-tibial OA.

[MRI symptomology in reflex sympathetic dystrophy of the foot]. / Séméiologie IRM de l'algodystrophie du pied.

PURPOSE: To describe the MRI findings of reflex sympathetic dystrophy of the foot and ankle. METHODS: Retrospective study of 50 patients with reflex sympathetic dystrophy of the foot (5 with the cold form, and 45 with the warm form) diagnosed based on clinical and scintigraphic findings. All patients underwent MR imaging. The MRI findings were correlated with the clinical and scintigraphic findings. RESULTS: Patients with the cold form of reflex sympathetic dystrophy had no abnormality of signal at MR imaging. All patients with the warm from of reflex sympathetic dystrophy showed periarticular marrow edema at MR, typically involving more than one bone (mean of 4). Other findings were inconstant: soft tissue edema, joint effusion, and rarely, subchondral band of low T1W signal intensity of unclear etiology. CONCLUSION: MR imaging, including fat-suppressed T2W or STIR images and noncontrast T1W images, is helpful in patients with the warm or acute form of reflex sympathetic dystrophy of the foot. In patients with the cold form, MR imaging is helpful to exclude another underlying etiology for the symptoms and identify patients with the warm form of the process.

Acute sacroiliitis as a manifestation of calcium pyrophosphate dihydrate crystal deposition disease.

While radiographic lesions of the sacroiliac joint (SIJ) are common in patients with calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, they are rarely accompanied by clinical symptoms. We report the case of a 69-year-old woman who presented with an acute sacoiliitis and a linear calcification in the right SIJ on CT scan. The patient recovered well after intra-articular steroid injections.

[Sacro-iliac involvement in he course of Paget disease. Report of 6 cases]. / L'atteinte sacro-iliaque au cours de la maladie de Paget. 6 observations.

OBJECTIVES: Determine the characteristic features of sacroiliac lesions observed in patients with Paget's disease. PATIENTS AND METHODS: A retrospective analysis of the hospital files of 87 patients cared for over a period of 12 years was performed. Six patients, 4 women and 2 men, mean age 79 years, were retained for study. In 4 patients one or both sacroiliac joints were involved with complete fusion of the sacral and iliac bones, confirmed by CT-scan in 3. In the 2 other patients, only one border was involved. Scintigraphy showed polyostotic Paget's disease in 3 cases with pelvic localization in the 3 others. Ankylosing spondylarthritis (B27+) was associated in 1 case and in 2 joint chondrocalcinosis without a calcium rim was visualized at the sacroiliac joint. Sacroiliac fusion was related either to new bone forming a bridge in front of the articular space or destruction of the joint cartilage with pagetic fusion. CONCLUSION: Sacroiliac involvement in Paget's disease leads to joint fusion by cartilaginous destruction and should suggest possible ankylosing spondylarthritis, ankylosing vertebral hyperostosis, or joint chondrocalcinosis.

[A new type of iliac fracture caused by bone insufficiency]. / Un nouveau type de fracture iliaque par insuffisance osseuse.

BACKGROUND: The iliac bone is an uncommon localization for bone insufficiency fractures. We report a new type. CASE REPORT: A 51-year-old woman with post-menopause osteoporosis was seen for a fracture of the ischio-pubic branch of the iliac bone. X-ray also revealed an unknown fracture situated above the anterior superior iliac spine continuing cranially and medially towards the iliac crest. DISCUSSION: Three types of iliac fractures due to bone deficiency have been described. Type 1, (oblique iliac), the fracture is oblique beginning in the greater sciatic notch and extending a more or less into the iliac wing. Type 2 (superior medial iliac) involves the most medial part of the iliac wing, approximately parallel to the sacroiliac joint. In type 3 (supra-acetabular), the fracture is in a supra-acetabular localization. Our case suggests a fourth type should be individualized.

Cystic rheumatoid arthritis with Felty's syndrome and ankylosing spondylitis.

A 63-year-old man with strictly axial ankylosing spondylitis since the age of 28 years had a seven-year history of cystic seronegative rheumatoid arthritis with Felty's syndrome. Cysts were present in the hands, feet, wrists, shoulders, hips, one elbow, and one knee. There was no evidence of juxtaarticular demineralization, joint space loss, erosions, or joint destruction. Rheumatoid pannus was demonstrated within the cysts, particularly at the hip, ruling out cystic hip disease due to ankylosing spondylitis. HLA typing demonstrated the B27 and DR4 haplotypes. HLA B27 may be associated with a worse prognosis of rheumatoid hip involvement.

HLA B27 and respiratory involvement in axial spondylarthropathies. A retrospective study in 107 male patients.

OBJECTIVE: To conduct a retrospective study of respiratory involvement in axial spondylarthropathies according to HLA B27 status. METHOD: Schöber's index, chest expansion and lung function parameters were measured in 107 male inpatients with spondylarthropathies, including 78 with and 29 without the HLA B27 antigen (groups I and II, respectively). Active or severe spondylarthropathy was defined based on widely used clinical and laboratory test parameters. RESULTS: The two groups were similar regarding age, body mass index, disease duration, proportion of smokers and proportion of patients requiring nonsteroidal antiinflammatory drug therapy. Overall, 30 patients had pure active disease, 11 had pure severe disease, 26 had active severe disease and 40 had nonactive nonsevere disease. Group I patients were significantly more likely to have active severe disease than group II patients, whereas the opposite was true for nonactive nonsevere disease. Mean erythrocyte sedimentation rate was higher in group I (22.6 +/- 21.6) than in group II (13.3 +/- 12.5) (P = 0.039). Group I patients had lower values for chest expansion (5.4 +/- 2.2 cm versus 6.37 +/- 1.9 cm; P = 0.045), vital capacity (91.9% +/- 13.9% versus 99.5% +/- 17.6%; P = 0.021), and total capacity (91.8 +/- 12.3 versus 98.1 +/- 13.9; P = 0.025). A restrictive defect was found in 12 group I patients versus one group II patient (nonsignificant difference). All patients with restrictive defects had active and/or severe disease. Two-way analysis of variance and Fisher's PSLD post-test suggested that lung function was influenced by disease severity but not by disease activity. CONCLUSION: Lung function impairment may be more common and more severe in HLA B27-positive than in HLA B27-negative spondylarthropathy patients. This difference may be entirely ascribable to increased disease severity in HLA B27-positive patients.