Genetic analysis of the interleukin‐1 receptor antagonist and its homologue IL‐1L1 in alopecia areata: strong severity association and possible gene interaction‡

Alopecia areata is an inflammatory hair loss disease with a major genetic component. The presence of focal inflammatory lesions with perifollicular T‐cell infiltrates reflects the importance of local cytokine production in the pathogenesis. In addition to its fundamental pro‐inflammatory role, the interleukin‐1 (IL‐1) system has major effects on hair growth regulation in vitro, with the inhibitory actions of IL‐1α and IL‐1β being opposed by the receptor antagonist IL‐1ra. The novel interleukin‐1 like molecule 1 (IL‐1L1) which has greatest gene sequence homology with IL1RN, the gene encoding IL‐1ra, is another potential IL‐1 antagonist. In view of previous studies suggesting a significant role for IL1RN polymorphisms in the pathogenesis of autoimmune/inflammatory disease, we have analysed polymorphisms of IL‐1ra (IL1RN+2018) and its homologue IL‐1L1 (IL1L1+4734) in a case–control association study on 165 patients and a large number of matched controls. Homozygosity for the rare allele of IL1RN (IL1RN*2) was significantly associated with alopecia areata [odds ratio (OR) = 1.89, 95% CI (1.09, 3.28); P = 0.02], confirming our previous findings of significant association with the IL1RN variable number tandem repeat (VNTR). The results also revealed a novel association involving a polymorphism of the interleukin‐1 receptor antagonist homologue IL1L1 at position + 4734, IL1RN+2018, and alopecia areata. The effect of a genotype combining three copies of the rare alleles at the IL1RN and IL1L1 loci conferred a more than additive increase in the risk of disease compared to IL1RN+2018 or IL1L1+4734 alone [OR 3.37 (1.60, 7.06); P = 0.002], suggesting possible synergy between the IL1RN and IL1L1 genes. This effect was stronger in patients with severe disease (alopecia totalis/universalis) [OR 4.62 (1.87, 11.40), P = 0.0022], and in those with early age at onset (< 20 years) [OR = 6.38 (2.64, 15.42), P = 0.0002]. Our results suggest that these polymorphisms within IL1RN and IL1L1 themselves or a gene in linkage disequilibrium with IL1RN and IL1L1 predispose to the more severe forms of alopecia areata.     

Renal cancer in adults. Review of 68 cases

The authors report a series of 68 cases of renal cancer observed over a 9-year period. Patients consisted of 33 women (49%) and 35 men (51%), with a mean age of 53 years (range: 23-85 years). The clinical features were polymorphic, dominated by loin pain (44%), haematuria (37%), a lumbar mass (19%), alteration of the general state (7%). The diagnosis was established by ultrasonography in 59 patients and CT-scan in 63 patients. The mean tumour diameter was 11 cm (4-22 cm) and two cases presented bilateral tumours. The time to diagnosis ranged from 1 month to 7 years. Staging reflected the advanced stage of the cancer. Treatment was surgical for 58 patients (58%). A lumbar incision was performed, in 40% of cases. Radical nephrectomy was performed in 82%, and partial nephrectomy was performed in 3% of patients. Histological examination of the specimen showed renal cell carcinoma in 75% of cases. The lymph nodes removed were invaded in 20% of cases. The mean follow-up was 29 months (6 to 84 months), normal at one year for 44 patients (86%) and at 5 years for 16 patients (31%). Tumour recurrence in the renal compartment was observed in 2 patients (4%). Asynchronous metastases occurred in 11 patients (21.5%) after 21 months. (range: 12-48 months). The overall 5-year survival was 100% T1, 69% T2 and 50% T3.     

Spontaneous remision of aplastic anemia occurring during a pregnancy

Aplastic anemia is a rare disease caused by destruction of pluripotent stem cells in bone marrow. The occurrence of aplastic anemia during pregnancy is rare and can be fatal for both mother and child. The association is not well explained and there is no consensus on optimal management. We report the case of 30 years-old women treated for aplastic anemia during pregnancy, the evolution is favorable.     

Factors correlated with left ventricular mass in hypertensive patients

Left ventricular hypertrophy (LVH) is an independent risk factor in hypertensive patient. THE AIM: Of our study is to evaluate prospectively the relationship between left ventricular mass and clinical, echocardiographical and ambulatory blood pressure data in hypertensive subjects. METHODS: We studied 88 hypertensive patient who underwent clinical and laboratory investigation, echocardiography and 24 hours ambulatory blood pressure monitoring. Correlations were made between these data and left ventricular mass. RESULTS: Clinical data, which correlated well with left ventricular mass, were duration of hypertension, systolic arterial pressure and pulse arterial pressure. In echocardiography left atrial area and left ventricular dysfunction correlated significatively with left ventricular mass. Data from 24 hours blood pressure monitoring as daytime systolic pressure, nighttimes diastolic pressure, ambulatory systolic pressure and ambulatory pulse pressure. CONCLUSION: In hypertensive patient, left ventricular mass correlated well with left atrial dilation and diastolic left ventricular dysfunction. It also correlated with 24 hours ambulatory blood pressure monitoring data.     

Dega osteotomy for the management of developmental dysplasia of the hip in children aged 2–8?years: results of 58 consecutive osteotomies after 13–25?years of follow-up

PurposeDevelopmental dysplasia of the hip (DDH) is a term used to cover a broad spectrum of anomalies ranging from mild dysplasia to high-riding dislocations. We report the management of DDH in children using the Dega osteotomy and their long-term follow-up.MethodsFifty-eight hips from 48 children younger than 8 years treated using the Dega osteotomy between January 1988 and October 2000 were included in this multcenter study. Both prospective (41 hips) and retrospective (17 hips) cases were included, and follow-up was for a minimum of 13 years. Radiographs were made preoperatively, immediately postoperatively, after 6 weeks or at removal of the spica cast if any, at 6-month intervals and/or as indicated for 3 years postoperatively and then on annual basis until the last follow-up. A single-cut computed tomographic scan was performed for all prospective patients. Special attention was paid to the predictive measures of hip arthrosis and the survival of the hip after Dega osteotomy. ResultsThe final clinical outcome was favorable in 44 hips (75.9 %). Eleven hips needed a second surgery (acetabuloplasty and/or arthroplasty) during the follow-up period.Conclusions In our pediatric patient population the Dega osteotomy proved to be an adequate measure for the management of this complex condition. The worst complication was avascular necrosis, and all of the affected hips ended with failure (pain, another surgery, or both).