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.     

About consistency of Solid's solubility data in supercritical CO2 and some thermodynamic properties estimation

In chemical industry, usual solvents are being replaced by supercritical fluids. Last few years, extraction by these environmentally benign solvents has had much attention and now is considered as the newest separation technology. However, developing new applications and improving existing ones is based on a set of thermodynamic and physical properties of pure solutes related to phase equilibrium for which experimental values cannot be found and consequently, there is an increase need for accurate estimates of these properties. This paper is interested firstly to a thermodynamic property which is the Krichevskii parameter and secondly to a thermophysical one which is the sublimation pressure. First parameter is considered as a governor of thermodynamic properties in binary dilute mixtures near the solvent's critical point and can be calculated from some rigorous relationships and in this paper a review and a new way for its estimation are presented based on consistency of solid's solubility data in supercritical fluids and dilute solution theory. Second parameter is considered as the predominant influencer on solubility in supercritical fluids and unavailability of its experimental values presents an obstacle to thermodynamic modeling of solubility data. For this reason and as a second step, in this paper we present a new manner for its estimation. Obtained results are relevant, very promising for each considered property and the methodology can be applied for other solutes with more complex structures as Pharmaceuticals (antibiotics, drugs, anti-inflammatories …), polycyclic aromatic hydrocarbons (PAHC) and dyestuffs.     

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.