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.

[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.

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.

[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.

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.

Is hyperlipidaemia a contributing factor to algodystrophy (reflex sympathetic dystrophy)?

To appreciate hyperlipidaemia as a contributing factor to reflex sympathetic dystrophy (RSD), we have evaluated basal lipidic values (cholesterol, HDL-cholesterol, triglycerides, apolipoproteins A1, B) and frequency of hypertriglyceridaemia (Turpin's diagnosis criteria) in 75 cases of RSD and in 75 paired controls. No difference exists in both groups with regard to frequency of hypertriglyceridaemia or basal lipidic values. These values seem independent of age, sex, duration of localization or etiology (traumatic or nontraumatic) of RSD. Hyperlipidaemia does not seem a contributing factor to RSD.

Regional intravenous guanethidine blocks in algodystrophy.

Five-hundred-thirteen regional intravenous guanethidine blocks were carried out in 125 cases of algodystrophy (118 adults), after failure of other treatments in 120 cases (Group I) and without previous treatments in 5 (Group II). A positive result occurred in 85 cases of Group I (71%) and in the 5 cases of Group II, after 4.5 +/- 1.7 blocks. In Group I the results did not differ significantly between upper (33 cases) and lower (87 cases) limb or in regard to sex, age, duration of disease, nature of previous treatments. The presence of psychic disorders was accompanied by less frequent (p less than 0.02) positive results. The tolerance was satisfactory in 85.6% of cases: 22 moderate side effects authorized a continuation of the blocks, 22 serious ones indicated interruption, especially one case of thrombophlebitis and another one of very transitory acute ischaemia. The risk of intolerance was significantly raised (p less than 0.02) by age. The regional guanethidine blocks seemed to be a good treatment for algodystrophy after failure of other treatments.

[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.

[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.

[Magnetic resonance imaging in the warm and cold forms of algodystrophy of the foot]. / L'imagerie par résonance magnétique dans les formes chaudes et froides de l'algodystrophie du pied.

PURPOSE: To report magnetic resonance imaging abnormalities in reflex sympathetic dystrophy of the foot. METHODS: Retrospective study of 22 algodystrophies of the foot, in warm phase in 17 cases, in cold phase in 5. RESULTS: Algodystrophy in warm phase: Bone medullary abnormalities were noted in 17 cases (decrease of signal intensity was found in T1 weighted images, increase of signal intensity in T2 weighted images, in T1 and T2 with fat-saturation, in T1 with gadolinium), located at the increased uptake technetium site in 16 cases. T1 and T2 weighted images with fat-saturation and T1 with fat-saturation after injection of gadolinium were pathological in all cases, T1 was normal in 2 cases. Soft tissues abnormalities were noted in 11 cases, joint effusion in 8 cases, synovial hypertrophy enhanced by gadolinium in 2 cases and a subchondral linear area of hypointense signal on T1 and T2 images was not present after gadolinium injection in 1 case. Six fractures were detected. Algodystrophy in cold phase: no bone edema, no synovial hypertrophy, no joint effusion, no soft tissues abnormalities, no fractures are detected. CONCLUSION: The results suggest that the MRI has a considerable value in diagnosis during the warm phase of reflex sympatetic dystrophy of the foot. The normal MRI findings during the cold phase could be important to understand its etiology.

[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.

[Treatment of rheumatoid psoriasis with bromocriptine]. / Traitement du rhumatisme psoriasique par la bromocriptine.

Non-steroid anti-inflammatory drugs and/or gold salts were unsuccessful alone in providing symptom relief in three men with rheumatoid psoriasis. All three were treated with bromocriptine (5 mg/d in 2 doses) after verification of normal baseline and protirelin-stimulation prolactin levels. There was a beneficial effect in nocturnal pain relief, morning stiffness, the Lee and Ritchie scores and biological markers of inflammation. Two of the patients were able to return to regular work occupation after 15 and 45 days. In the third patient, bromocriptine was discontinued due to nausea and dizziness but was reintroduced successfully in fractionated doses after recurrence of the symptomatology. Treatment was continued without secondary adverse effects for 3 to 9 months providing continued symptom relief. Bromocriptine can be an effective adjuvant for the management of rheumatoid psoriasis.

[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.

[Early spinal bone loss in Klinefelter syndrome. X-ray computed tomographic evaluation in 16 cases]. / Ostéopénie rachidienne précoce dans le syndrome de Klinefelter. Evaluation tomodensitométrique lombaire dans seize observations.

The lumbar spine bone density (BMD) was assessed by single energy quantitative tomography in 16 young patients with non traited Klinefelter's syndrome (19 +/- 2.2 yr) and in 16 age weight- and height-matched control males. The BMD were significantly lower in the patients than in the control group (175 +/- 26 mg/cm3 K2HPO4 vs 204 +/- 26; p < 0.02). The authors found a significant correlation between BMD and plasmatic levels of testosterone and estradiol suggesting the hormonal origin of the osteopenia whereas no correlation was found with serum calcium, phosphorus or prolactin levels or hydroxy-proteinuria. Such osteopenia in young patients with Klinefelter's syndrome supports early androgenic treatment of these patients.

[Respiratory involvement in ankylosing spondylarthritis: relations to alpha-1-antitrypsin phenotypes and tobacco consumption]. / Atteinte respiratoire de la spondylarthrite ankylosante: ses rapports avec les phénotypes de l'alpha-1-antitrypsine et la consommation de tabac.

The distribution of alpha-1-antitrypsin phenotypes was similar in 555 controls and 98 patients with ankylosing spondylitis: the MM phenotype (including "main" MM subtypes, i.e., M2M2 and M3M3, and "secondary" MM subtypes) was found in 86% of subjects and "rare" phenotypes combining M, F, S, and Z in 14%. Six per cent of the controls and none of the ankylosing spondylitis patients had the M4M4 phenotype (p < 0.01). Respiratory function tests were performed in 49 patients with axial ankylosing spondylitis and 30 controls matched on sex, age, body mass index, smoking status, nonsteroidal antiinflammatory drug use and distribution of "main" and "secondary" phenotypes (no subjects in this study had "rare" phenotypes); the significant reduction in chest expansion seen in the ankylosing spondylitis group (5.6 +/- 2.7 cm versus 8.7 +/- 1.2; p < 0.001) was correlated with total capacity (p < 0.04) and vital capacity (p < 0.001). Restrictive ventilatory dysfunction was seen in four ankylosing spondylitis patients versus no controls (p < 0.02). Proximal airway obstruction, pulmonary distension and decreases in the diffusing capacity for carbon monoxide were seen in similar proportions of ankylosing spondylitis patients and controls. In the ankylosing spondylitis group, evidence of pulmonary distension included increases in mean residual functional capacity and mean residual volume (105.6 +/- 21.2% versus 94.8 +/- 17.4, p < 0.03, and 100.3 +/- 22.8% versus 88.6 +/- 17.9, p < 0.04, respectively) and bullous emphysema in the lung bases in two patients (versus no controls). In the small subgroup of ankylosing spondylitis patients with lung distension or a decreased diffusing capacity for carbon monoxide, smokers and nonsmokers were evenly balanced but subjects with "secondary" phenotypes outnumbered those with "main" phenotypes (p < 0.02); in contrast, our data suggested that smoking may play the central role in the proximal airway obstruction. Our findings suggest that in addition to previously established causes of pulmonary involvement in ankylosing spondylitis a "secondary" MM phenotype (i.e., neither M2M2 nor M3M3) may be a risk factor for lung distension and impaired diffusing capacity for carbon monoxide.

[Involvement of the foot in reactive arthritis. A retrospective study of 105 cases]. / L'atteinte du pied dans les arthrites réactionnelles. Etude rétrospective de 105 cas.

The foot is among the sites most often affected in spondyloarthropathies, whose diagnostic criteria include heel pain and sausage-like swelling of the toes. Few studies have systematically analyzed foot manifestations in reactive arthritides. We retrospectively reviewed 143 patients fulfilling Amor's criteria. One hundred five patients (73%) exhibited inflammatory involvement of one (n = 47) or both feet. In 8 cases no other articular sites were affected. Heel pain was reported by 36% of patients (52/143), within the first six months in half the cases. Both heels were painful in 26 patients. Heel pain was plantar in 36 cases, posterior in 7 cases, and bipolar in 4 cases. Roentgenographic calcaneal changes were found in 54 cases overall but in only 31 of the patients with heel pain. Sixteen patients had asymptomatic calcaneitis. Seventeen patients had involvement of the transverse tarsal joint, usually with no other affected joints. Involvement of the subtalar joint was rare (6 cases). Metatarsophalangeal manifestations were found in 44% of patients (64/143) and were symmetrical in 17 cases; 17 patients had changes of the great toe suggestive of gout. Interphalangeal arthritis was seen in 22% (32/143) of cases; in half these cases the first two rays were affected and sausage-like digital swelling was seen in 28 patients (20%). Permanent roentgenological damage was uncommon.

[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.