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.     

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.     

Assessment of 8-methoxypsoralen and ultraviolet a light effects on human stroma generation and function

Photopheresis or extracorporeal photochemotherapy (ECP) is a new immunomodulatory therapy in which a patient's leukocytes are exposed extracorporeally to 8-methoxypsoralen (8-MOP) and ultraviolet A (UVA) light. Although it is used for the treatment of cutaneous T cell lymphoma, graft-versus-host disease, and several autoimmune diseases, with efficacy and safety reported in almost all studies, the mechanisms by which ECP exerts its beneficial effects are still unclear. As cellular targets of this procedure are numerous, we investigated the effects of 8-MOP and UVA light on stromal precursors and mature stromal layers. Human bone marrow stromal cell layers were established in long-term bone marrow culture medium from normal marrow mononuclear cells. Normal marrow mononuclear cells were incubated with 8-MOP and/or exposed to UVA light (PUVA treatment) before culturing. A control without 8-MOP and UVA was also included in the study. Apoptosis induction was evaluated using annexin V following 7 days after PUVA. After 4-6 weeks of culture, stromal layers were examined under a phase-contrast microscope to identify structural differences between PUVA-treated and control stroma. To determine whether PUVA treatment affected stromal regulation of adherent hematopoietic cell survival, mature stromal layers, incubated with 8-MOP and exposed to UVA light, were cocultured with nonadherent mononuclear cells from normal marrow. After 24 h, the percentage of apoptotic hematopoietic cell precursors was quantified by flow cytometry. This study provides evidences that the in vitro exposure of human stromal cell precursors to UVA light, in the presence of 8-MOP, inhibits stromal layer generation by inducing apoptosis, as evidenced by annexin V staining following 7 days of culture. Here, we show an additional cell target for this psoralen following UVA irradiation. However, in a second set of experiments, PUVA treatment did not affect the stromal capacity to support hematopoiesis in culture. Our results can contribute to a better definition of ECP mechanisms of action for future development of experimental designs and clinical applications of this intriguing procedure.     

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.     

Biomarkers of periodontal inflammation in the Australian adult population

Background:  Several inflammatory biomarkers are implicated in the pathogenesis of periodontitis including interleukin-1β (IL-1β) and C-reactive protein (CRP). This study investigated the presence of these factors in gingival crevicular fluid (GCF) and their relationship to clinical and social determinants of periodontitis in the Australian population.
Methods:  Equal numbers of periodontitis cases and non-cases were sampled during oral epidemiologic examination in the National Survey of Adult Oral Health. GCF was sampled from four sites where probing pocket depth (PPD) and recession were recorded. From these, IL-1β and CRP were quantified by ELISA and the log amount of GCF IL-1β (pg) per person and the proportion of adults with detectable CRP was computed.
Results:  Periodontitis cases (n = 511) had significantly higher levels of IL-1β and CRP than non-cases (n = 562). PPD, clinical attachment loss, plaque and gingivitis indices were positively associated with elevated levels of both biomarkers. Levels of both were positively associated with age, low socio-economic position and non-Australian birth.
Conclusions:  The presence of IL-1β and CRP in GCF are associated with periodontal disease parameters within the Australian population. The levels of both biomarkers are influenced by age, education and eligibility for public dental care.