Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.
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Biomedical subjects
Publications and source records attributed to C Dromer.
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A 68-year-old woman presented chest pain and exercise-induced dypnea for one year. Diagnosis was a thoracic solitary fibrous tumor. These tumors are very rare. Clinical outcome is generally good except in 13% of the cases with a malignant component. Complete surgical resection is required.
OBJECTIVE: Synovial angiogenesis is at the epicenter of rheumatoid pannus development and is largely dependent on vascular endothelial growth factor (VEGF). We sought to determine whether the VEGF level in rheumatoid synovial tissue is a marker for disease severity. PATIENTS AND METHODS: Twelve patients with rheumatoid arthritis (RA) underwent a clinical and radiological evaluation at the time of a synovial biopsy done during joint surgery required by RA progression (T1) and, on average, 10 years later (T2). Immunohistochemistry was used to detect and quantitate VEGF in the synovial biopsy taken at T1. RESULTS: VEGF labeling was seen on endothelial cells and macrophages in all 12 synovial biopsies. The amount of endothelial-cell VEGF labeling (assessed semi-quantitatively) was significantly correlated with Larsen score progression during the 10-year follow-up. The amounts of endothelial cell or macrophage VEGF labeling was not correlated with the joint count, radiological stage of the biopsied joint or progression of this stage, Larsen scores at T1 or T2, presence of rheumatoid factor, or presence of extra-articular manifestations. CONCLUSION: Our results suggest that the amount of VEGF in the rheumatoid synovium may be a marker for joint destruction in patients with RA.
After a 30-s breath-hold (BH), expired temperature (TE) does not reach core temperature. One explanation is that the gas in the airways is not in thermal equilibrium with the airway walls. This possibility was eliminated by comparing TE in six subjects breathing either helium-oxygen or air after a BH. Another possibility is that the airway walls and surrounding tissues have sufficient thermal inertia to slow down thermal equilibrium during BH. This was checked by measuring oral and upper esophageal temperatures after cooling or heating the airways. It took more than 2 min for these temperatures to recover their steady-state value. Six subjects were requested to perform a long apnea after hyperventilating for 1 min and then taking a single breath of 100% oxygen. TE was still lower than core temperature after a 1-min BH, and there was no difference after a 2-min BH. The difference between expired and core temperatures during BH thus appears to be due to the thermal inertia of the airways and their surrounding tissues.
PURPOSE: To evaluate the contribution of principal imaging techniques in diagnosis and treatment in adhesive capsulitis of the shoulder. MATERIALS AND METHODS: In 20 patients presenting adhesive capsulitis of shoulder since mean of 6,7 months, the following examinations were performed: radiographies, angioscintigraphy, MRI as well as an opaque arthrography and a bursography associated with corticosteroid injection. Patients were followed during one year. RESULTS: The opaque arthrography was to affirm the adhesive capsulitis for the inclusion of the patients. Radiographies (patchy demineralization) and scintigraphy (hyperfixation) were often pathological. In MRI, T1 fat-saturated sequences after contrast injection almost always showed enhancement of the articular capsula, the synovia, the miscellaneous bone or the sub-acromial bursa. The latter was often modified and retracted at bursography. In 19 of 20 cases, a functional improvement was observed after the opacifications. CONCLUSION: Therapeutic effect of both arthrography and bursography is almost proved. Post contrast MRI confirms presence of vascular troubles in all the shoulder structures even at this advanced stage.
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We present a case of dermatophytic granuloma caused by Microsporum canis in a heart-lung recipient. This 66-year-old man was seen for erythematous pustules and papules on the forearm. The diagnosis was suspected after histological examination showing an inflammatory infiltrate in the upper dermis with giant cells containing intracytoplasmic fungal elements. Cultures of the skin biopsy confirmed the diagnosis identifying M. canis. Our case emphasizes the possibility of deep dermatophytic infections in immunocompromised patients. There are only 4 additional reports of M. canis infection responsible for invasion of the dermis in such patients. The follicle involvement probably explains these dermal lesions due to the progression of the dermatophyte from the hair follicle to the dermis. In our observation topical antifungal therapy alone was unsuccessful and fluconazole seems to be the treatment of choice for these M. canis invasive dermal cutaneous infections.
UNLABELLED: Psoriatic arthritis probably owes to its radioclinical presentation its position as the most controversial and poorly understood of all major chronic inflammatory joint diseases. Differentiating psoriatic arthritis from ankylosing spondylitis and rheumatoid arthritis remains difficult. OBJECTIVE: To conduct a statistical analysis aimed at identifying clinical, radiological, and laboratory criteria for classifying psoriatic arthritis. PATIENTS AND METHODS: 260 patients were studied retrospectively, including 100 cases with psoriatic arthritis and 160 controls with ankylosing spondylitis meeting Amor's criteria (n = 80) or with rheumatoid arthritis meeting American College of Rheumatology criteria (n = 80). Mean disease duration was five years. Thirty-nine variables were recorded for each patient. Multiple logistic regression and discriminant analysis were used to select the classification criteria. RESULTS: Each of the two statistical methods selected the same nine criteria. After assigning a weighting coefficient to each of these criteria, sensitivity and specificity were better with the multiple logistic regression model (95% and 98%, respectively) than with the discriminant analysis model. CONCLUSION: Our classification criteria require further evaluation in multicenter prospective studies.
UNLABELLED: This article reports our experience with a five-day back school program focusing on active exercises, safe lifting, and occupational therapy. PATIENTS AND METHODS: The medical charts of 144 back school patients were reviewed retrospectively. Age, gender, type of low back pain, radiological findings, impact on work and psychological well-being, surgical history, and history of prior back school experience were recorded on the first and last back school session days (D1 and D5), after six months (M6), and after 12 months (M12). Efficacy was evaluated based on the number of days off work, Schöber's index, a visual analog scale pain score, and scores evaluating the active exercise, safe lifting, and occupational therapy techniques taught during the back school course. RESULTS: All evaluation scores were significantly better on D5 than on D1. This effect was sustained over time. The pain score fell by 50% between D1 and D5 (32.6 +/- 23.1 versus 16.3 +/- 18.5) and remained low at M6 and M12 (18.1 +/- 19.5 and 14.8 +/- 19.3) The number of days off work fell dramatically from baseline to M6 (51.2 +/- 63.8 vs 9.8 +/- 38.8) and remained low at M12. Forty-four patients were lost-to-follow-up between D5 and M6. CONCLUSION: Back school interventions are helpful in preventing recurrences of low back pain. Our promising data deserve to be confirmed in a larger study involving quality of life assessments, determination of the number of physician visits for low back pain during the M0-M6 and M6-M12 periods, and a comprehensive evaluation after 18 months.
We report three cases of frozen shoulder (including one with bilateral involvement) in human immunodeficiency virus (HIV)-positive patients under triple antiretroviral therapy. In each case, the diagnosis was confirmed by arthrography, and the classic causes of frozen shoulder were ruled out. We suggest that protease inhibitor therapy may have contributed to the development of frozen shoulder in these patients. Long-term follow-up of the increasing numbers of patients under triple antiretroviral therapy will confirm or refute this hypothesis.
Synovial cysts are far less common at the hip than at the knee and usually occur in patients whose hip cavity communicates with the iliopsoas bursa. We report 12 cases of enlargement of the iliopsoas bursa, nine men and three women, with a mean age of 48 years. The six patients with septic bursitis had severe symptoms similar to those seen in septic arthritis of the hip. Chronic pain with or without a palpable inguinal swelling was the main symptom in the six remaining patients, some of whom had compression of neighboring structures making the diagnosis more difficult. Ultrasonography is the best first-line investigation in patients with an inguinal swelling. Computed arthrotomography with examination of the synovial fluid or magnetic resonance imaging should be performed as a confirmatory diagnostic test. Our series provides evidence of the efficacy of appropriate antimicrobial therapy in septic cases and of corticosteroid injections into the bursa or hip cavity in nonseptic cases.
OBJECTIVE: To demonstrate the therapeutic value of subacromial bursography (with a steroid injection) in adhesive capsulitis of the shoulder inadequately improved by arthrographic glenohumeral distension with steroid injection. METHOD: Twenty cases of adhesive capsulitis documented by glenohumeral arthrography were studied prospectively. A steroid was injected during distension arthrography, which was followed by physical therapy. Subacromial bursography without steroid injection was done routinely for diagnostic purposes. Constant's simplified score and range of motion were determined in each patient at baseline and after one, three, six and 12 months. Patients who were inadequately improved after one to three months underwent repeat subacromial bursography with steroid injection, followed by physical therapy. RESULTS: Of the 20 patients, 13 were noticeably improved 1.7 months on average after the distension arthrography. Of the remaining seven patients, six were improved 0.7 months on average after the bursography with steroid injection. CONCLUSION: Glenohumeral distension arthrography with steroid injection followed by physical therapy is effective in expediting the spontaneously favorable outcome of adhesive capsulitis and also allows to confirm the diagnosis. However, the subacromial bursa is almost consistently involved. Subacromial bursography with steroid injection can be useful in cases that fail to respond to conventional therapy.
UNLABELLED: It has been suggested that in some patients non-traumatic aseptic osteonecrosis of the hip (AOH) could be the result of the intra-osseous thrombosis. Antiphospholipid antibodies (APL) have been associated with venous and arterial occlusive events and the association between AOH and APL syndrome has been reported. OBJECTIVES: To compare bone vessels of the femoral head in patients operated on for AOH with or without APL. PATIENTS: Twenty patients (mean age 47 yrs) with AOH were included: in eight patients APL (IgG-ELISA) were negative (< 8 GPL units), in nine patients APL were doubtful (8-15 GPL units), and in three patients APL were positive (> 15 GPL units). METHODS: Bone vessels were examined: arteriosclerotic lesions, i.e. fibrosis or thickening of the media and rupture of the internal elastic lamina, thrombosis or vasculitis were sought in the femoral heads after total hip replacement or core decompression. RESULTS: Bone vessel lesions were the same in the three groups.
A prospective study of anterior chest wall involvement was conducted in 50 ankylosing spondylitis patients and 50 psoriatic arthritis patients in the absence of palmoplantar pustulosis. All patients underwent a physical examination, tomograms, and a radionuclide bone scan. Magnetic resonance imaging with gadolinium was done in some cases. Half the patients in both groups had anterior chest wall involvement. Enthesitis was the mechanism of the lesions. The manubriosternal symphysis and sternocostoclavicular joints were the most common sites of involvement, although other entheses in the region were affected in some patients.
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A new case of insufficiency fracture in a patient with tabes dorsalis is reported. Whereas the osteoarthropathies and bone lesions due to tabes dorsalis are well known, only one other case responsible for bone loss has been reported in the medical literature.
The authors report a case of Pyoderma gangrenosum with seronegative nondestructive polyarthritis and perinuclear antineutrophil cyoplasm antibody. Rheumatic disorders that occur in association with Pyoderma gangrenosum are reviewed. The constellation of manifestations in the authors' patient does not have been reported previously and may represent a new entity among the rheumatic manifestations of Pyoderma gangrenosum.
The rate of occurrence of antiphospholipid antibodies was compared in 47 patients with avascular necrosis of the femoral head and in 47 controls matched on age and sex. Antiphospholipid antibodies were looked for using three techniques in each patient, namely the VDRL test, an ELISA for anticardiolipin, and a circulating anticoagulant detection procedure involving three different tests. The VDRL and the tests for circulating anticoagulants were negative in all the patients and controls. No significant between-group difference was found for the ELISA, which was positive in three patients and two controls.