Destructive arthritis due to silicone: a foreign-body reaction

The authors report 3 cases of erosive arthritis resulting from a foreign-body reaction to a silicone implant in the wrist. No patient had a history of inflammatory arthritis. Radiographic changes included well-defined lytic lesions with thin, sclerotic margins, normal mineralization, and loss of volume of the implant. Pathologically, a destructive foreign-body reaction was seen, with intra- and extracellular silicone debris.     

Radiofrequency ablation combined with percutaneous ethanol injection in patients with hepatocellular carcinoma

Background and study aimsHepatocellular carcinoma (HCC) is a major burden on health-care systems worldwide. Although radiofrequency ablation (RFA) is currently considered the best technique for coagulative necrosis, the superiority of concomitant use of RFA and percutaneous ethanol injection (PEI) needs to be determined. The study was designed to compare efficacy, safety and rate of survival of patients with HCC assigned to receive combined PEI–RFA versus RFA alone and versus PEI alone.Patients and methodsThis 3-year study enrolled 90 cirrhotic patients with HCC (Child’s class A or B, but not class C). They were randomly assigned for either PEI–RFA (group I), RFA alone (group II) or PEI alone (group III). The primary end point was ablation of the tumour. The secondary end point was rate of survival and recurrence.ResultsAfter the first session, complete ablation was significantly higher in the combination group (87.9%) compared with the RFA group (54.54%). After the second session, complete ablation was achieved in 97.0% of the combination group and in 84.8% of the RFA group. Regarding the PEI group, 75% had complete ablation, whereas 25% had partial ablation after multiple sessions. The survival rate, 1.5 years later, was significantly higher in group I (86.7%) compared with group III (63.3%). The overall incidence of serious adverse events was nil.ConclusionCombined treatment is superior to RFA alone and to PEI alone, in safety and efficacy in patients with HCC.     

A founder mutation in BBS2 is responsible for Bardet‐Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS. A founder mutation in BBS2 is responsible for Bardet‐Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. Bardet‐Biedl syndrome (BBS) is a multisystem genetically heterogeneous disorder, the clinical features of which are largely the consequence of ciliary dysfunction. BBS is typically inherited in an autosomal recessive fashion, and mutations in at least 14 genes have been identified. Here, we report the identification of a founder mutation in the BBS2 gene as the cause for the increased incidence of this developmental disorder in the Hutterite population. To ascertain the Hutterite BBS locus, we performed a genome‐wide single nucleotide polymorphism (SNP) analysis on a single patient and his three unaffected siblings from a Hutterite family. The analysis identified two large SNP blocks that were homozygous in the patient but not in his unaffected siblings, one of these regions contained the BBS2 gene. Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472‐2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts, confirming that this is a founder mutation in the Hutterite population. Further studies are required to determine the frequency of this mutation and its role, if any, in the expression of other ciliopathies in this population.     

Comparative study between the Light Cycler and the PCR-restriction fragment length polymorphism in detecting factor V Leiden and factor II 20210G>A mutations

OBJECTIVES: To test reproducibility, speed and cost of testing for factor V Leiden and FII 20210G>A in our practice. DESIGN AND METHODS: We compared conformity, reproducibility, speed and cost using the Light Cycler (LC) and PCR-RFLP. RESULTS: There was 100% conformity and reproducibility. LC was faster but 23% more expensive per sample. When equipment depreciation and patient expenses are added, LC testing becomes cheaper. CONCLUSION: In our practice, LC provides fast, reproducible and cost-effective results.     

MYOMECTOMY IN PREGNANCY: INCARCERATED PEDUNCULATED FIBROID IN AN UMBILICAL HERNIA SAC

We describe a rare case of a 31-year-old woman at 28 weeks of pregnancy presenting with an incarcerated pedunculated fibroid in an umbilical hernia sac. She had a successful myomectomy and hernia repair and proceeded to have spontaneous vaginal delivery at term. Incarceration of a pedunculated fibroid presents a diagnostic puzzle which can be successfully treated by myomectomy.