Paul Landais

How to diagnose spondyloarthritis early? Accuracy of peripheral enthesitis detection by power Doppler ultrasonography

Objective Early diagnosis of spondyloarthritis (SpA) is sometimes difficult owing to the lack of reliable diagnostic criteria. The objective of this study was to determine the diagnostic accuracy of detecting enthesitis by power Doppler ultrasonography (PDUS) in patients with suspected SpA. Methods A prospective single-centre cohort study was performed in patients with symptoms suggestive of SpA (inflammatory back pain, arthritis, enthesitis or dactylitis, HLAB27+ uveitis) who underwent clinical examination, pelvic x-ray, MRI of lumbar spine/sacroiliac joints, HLA-B typing and other tests judged useful for diagnosis. Blinded PDUS examination of seven sites of enthesitis was performed at baseline. The gold standard was the diagnosis made by the referring rheumatologist according to the development of symptoms and findings, blinded to PDUS results, during routine follow-up for up to 2 years. Results Between November 2002 and October 2004, 118 patients were included in the study. After 2 years a definite diagnosis was retained for 99 patients (51 SpA and 48 non-SpA). PDUS detection of at least one vascularised enthesis provided good predictive value for diagnosing SpA (sensitivity 76.5%; specificity 81.3%; positive likelihood ratio 4.1; OR 14.1; p<0.0001). Vascularised enthesitis detected by PDUS and Amors criteria were the only independent contributors to a diagnosis of SpA in multivariate logistic regression (c-index=0.87). Alternatively, CART analysis resulted in a highly sensitive and specific diagnostic tree by combining PDUS with Amors criteria. Conclusions PDUS appears to be a valuable first-line diagnostic tool to confirm a diagnosis of SpA.

Increased risk of solid renal tumors in lithium-treated patients

Cystic kidney diseases and toxic interstitial nephritis may be complicated by renal tumors. Long-term lithium intake is associated with tubulointerstitial nephritis and renal cysts but to date such an association with tumors has not been determined. We evaluated this in a retrospective study to determine whether lithium-treated patients were at higher risk of renal tumors compared with lithium-free patients with chronic kidney disease (CKD), and to the general population. Over a 16-year period, 14 of 170 lithium-treated patients had renal tumors, including seven malignant and seven benign tumors. The mean duration of lithium exposure at diagnosis was 21.4 years. The renal cancers included three clear-cell and two papillary renal cell carcinomas, one hybrid tumor with chromophobe and oncocytoma characteristics, and one clear-cell carcinoma with leiomyomatous stroma. The benign tumors included four oncocytomas, one mixed epithelial and stromal tumor, and two angiomyolipomas. The percentage of renal tumors, particularly cancers and oncocytomas, was significantly higher in lithium-treated patients compared with 340 gender-, age-, and estimated glomerular filtration rate (eGFR)-matched lithium-free patients. Additionally, the Standardized Incidence Ratio of renal cancer was significantly higher in lithium-treated patients compared with the general population: 7.51 (95% confidence interval (CI) (1.51-21.95)) and 13.69 (95% CI (3.68-35.06)) in men and women, respectively. Thus, there is an increased risk of renal tumors in lithium-treated patients.

Progress in Nephron Sparing Therapy for Renal Cell Carcinoma and von Hippel-Lindau Disease

PURPOSE Patients with von Hippel-Lindau disease frequently have early, multiple and recurrent renal cell carcinoma. Renal cell carcinoma treatment, which must prevent metastatic disease and spare nephrons, has changed in the last 2 decades. We evaluated renal cell carcinoma treatments in the long term in a large series of patients with von Hippel-Lindau disease. MATERIALS AND METHODS We retrospectively evaluated the use and results of surgery and radio frequency ablation in patients with von Hippel-Lindau followed at our institution between 1988 and 2009. Renal anatomical survival was analyzed according to 3 periods, including 1) 1988 to 1994--the learning phase of nephron sparing surgery, 2) 1995 to 2003--routine nephron sparing surgery and 3) 2004 to 2009--the emergence of radio frequency ablation. RESULTS A first renal cell carcinoma was treated at a mean age of 38 years (range 15 to 67) in 113 patients with von Hippel-Lindau disease. During a median followup of 7.2 years 251 therapeutic procedures were performed in a total of 176 kidneys. We observed a shift of first line renal cell carcinoma treatment with time, that is nephrectomy in 52% of cases in period 1, tumorectomy in 75% in period 2 and radio frequency ablation in 43% in period 3. The shift paralleled improved renal survival. While nephron sparing surgery was primarily done for lesions greater than 30 mm, radio frequency ablation was used to treat less numerous and smaller ipsilateral lesions but they required more frequent intervention. Radio frequency ablation became the most widely used second or third line procedure and allowed renal salvage in 8 patients. CONCLUSIONS Nephron sparing surgery and more recently radio frequency ablation enable earlier treatment of smaller tumors and are associated with a significant improved renal prognosis in patients with von Hippel-Lindau disease.

Plate-forme pour la surveillance épidénnologlque et l’aide à la décision en santé. Hivern@le — KhiObs: surveillance épidénnologique des pathologies hivernales de la sphère ORL chez l’enfant

Background An observatory of ENT diseases in children was set up. It aimed at estimating the incidence of acute episodes of rhinopharyngitis, otitis media, tonsillitis, sinusitis and laryngitis and evaluating their time-space evolution in winter in France. In addition, this study evaluated the ability of our surveillance platform generator to implement and manage such an observatory.

CEMARA: une plate-forme Web pour les maladies rares

A rare disease is a condition the prevalence of which is lower than 5 cases per 10,000 inhabitants. At least 7000 rare disease have been discovered. in France, rare diseases affect nearly 30,000 patients and often only few cases for a given disease. Three to 4% of children and 6% of the population in Europe present with a rare disease. Most of these diseases do not have any curative treatment yet. It is thus a true public health stake. In France, a National Rare Diseases Plan was initiated in 2004. Thirty three out of 132 labelled Reference Centres (RC) share a common Information System called CEMARA. It is dedicated to collect continuous and complete records of patients presenting with a rare disease, and their follow-up. The main objective of CEMARA is to analyze the epidemiological patterns of rare diseases. It is also to contribute to the missions of the RC regarding the registration and description of their activities, coordination of the network of their correspondents, organization of the follow-up of rare diseases. A description of CEMARA is provided as well as its cooperation with Orphanet and GenAtlas, and a presentation of the 30,119 current records collected by more than 400 health care professionals belonging to more than 100 specialized sites.