Nasal dermoids: the significance of a midline punctum

Nasal dermoids are rare and their diagnosis is often delayed until complications occur. Signs such as a midline nasal punctum may be noted at birth but the significance of this finding frequently passes unrecognised. The cases are reported of two patients which illustrate the typical presentation of these lesions and their subsequent management is discussed.     

Differences in the association of p53 phosphorylated on serine 15 and key enzymes of homologous recombination

Phosphorylation of p53 on serine 15 by ATM or ATR is a frequent modification and initiates a cascade of post-translational modifications. To identify possible mechanisms that modulate p53 functions in recombination surveillance, we compared the nuclear localization of p53 phosphorylated on serine 15 (p53pSer15) and the key enzymes of homologous recombination (HR) after replication fork stalling. We demonstrate an almost mutually exclusive subcompartmentalization with Rad52, while p53pSer15 was colocalizing with 40-60% of the Rad51 and Mre11 foci. Therefore, possible sites of p53pSer15-dependent regulation seem to be sites of Rad51- rather than Rad52-dependent HR processes. Remarkably, the association of p53pSer15 with repair complexes containing Rad51 or Mre11 was transient, because less than 20% of the Rad51 and Mre11 foci overlapped with p53pSer15 after 6 h. When we examined colocalization and co-immunoprecipitation of p53pSer15 and the RecQ helicase BLM with recombination surveillance and proapoptotic functions, we observed colocalization within a fraction of approximately 70% of the BLM foci and stable physical interactions until 6 h after replication arrest. Our data suggest that p53pSer15 plays a dual role in the functional interactions with early complexes of Rad51-dependent recombination and with BLM-associated surveillance and signalling complexes within distinct nuclear subcompartments.     

Taking CHARGE: A self-management program for women following breast cancer treatment

The purpose of the study was to develop and evaluate Taking CHARGE, a self-management intervention designed to facilitate successful transitions to survivorship after breast cancer treatment. The Taking CHARGE intervention involves a two-pronged approach building on self-regulation principles to (1) equip women with self-management skills to address concerns following breast cancer treatment, and (2) provide information about common survivorship topics. The program involved four intervention contacts, two small group meetings and two individualized telephone sessions, delivered by nurse/health educators. This paper focuses on the process evaluation findings from a preliminary test of the Taking CHARGE intervention conducted with 25 women, aged 34-66 years, completing breast cancer treatment, who were randomly assigned to the intervention group. The process evaluation was conducted to obtain systematic information about the relevance and usefulness of the self-regulation approach, informational aspects, and program delivery. The findings indicated that intervention group participants found the Taking CHARGE program to be timely, relevant, and to have high utility in dealing with concerns that exist following breast cancer treatment. The process evaluation findings provide early evidence of the usefulness of the Taking CHARGE intervention for successful transition to survivorship following breast cancer treatment.     

Everyday activity predicts bone geometry in children: the iowa bone development study

PURPOSE: Bone adapts to changing mechanical loads by altering the structure appropriately. These adaptations should be evident in the bone cross-sectional area (CSA) and section modulus (Z), indices of axial and bending strength, respectively. In this cross-sectional study, we investigated associations between physical activity, CSA, and Z in 467 young children (mean age 5.2 yr). We also examined whether lean tissue mass, which is predominantly muscle, mediates the relationship between physical activity and bone structural measures. METHODS: Physical activity was assessed using accelerometry and questionnaire. Proximal femur measures of the neck, intertrochanteric, and shaft CSA (cm) and Z (cm) were derived from dual-energy x-ray absorptiometry (DXA) scans using the Hip Structure Analysis program. Total body lean mass (kg) was also measured using DXA. RESULTS: Boys were more physically active than girls. Boys also had greater CSA, Z, and lean mass than girls. At each region, time spent in vigorous activity was positively and consistently associated with CSA and Z in boys and girls (r = 0.19 to 0.32). After adjustment for age, body mass, and height, vigorous activity explained, on average, 6.9% of the variability in CSA and Z. With additional adjustment for lean mass, vigorous activity explained 3.7% of the remaining variability in CSA and Z. CONCLUSION: This study demonstrates that everyday amounts of physical activity in healthy, normal children are associated with bone geometry and that differences in lean mass explain some, but not all, of this association. This suggests that, even in young, nonathletic children, bone may adapt to physical activity by structurally remodeling.     

Gene polymorphisms,bone mineral density and bone mineral content in young children:the Iowa bone development study

We examined the association of candidate gene polymorphisms with bone mineral density (BMD) and bone mineral content (BMC) in a cohort of 428 healthy non-Hispanic white children participating in the Iowa Bone Development Study, a longitudinal study of determinants of bone accrual in childhood. BMD and BMC measurements of the hip, spine and whole body were made using a Hologic 2000 Plus densitometer in 228 girls and 200 boys ages 4.5–6.5 years. Genotypes at 14 loci representing eight candidate genes [type I collagen genes (COL1A1 and COL1A2), osteocalcin, osteonectin, osteopontin, vitamin D receptor (VDR), estrogen receptor (ER), androgen receptor (AR)] were determined. Gender-specific and gender-combined prediction models for bone measures that included age, weight, height (and gender) were developed using multiple linear regression analysis. COL1A2 and osteocalcin genotypes were identified as having the strongest and most consistent association with BMD/BMC measures. Osteonectin, osteopontin and VDR translation initiation site polymorphisms were associated with some individual bone measures, but none of the associations was as consistent as those identified for the COL1A2 and osteocalcin genes. No association was identified with COL1A1 (RsaI and Sp1), VDR (BsmI) and ER polymorphisms (PvuII, XbaI, TA) and BMD/BMC. However, we identified significant gene-by-gene interaction effects involving the ER and both VDR and osteocalcin, which were associated with BMD/BMC. Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.     

Low grade fibromyxoid sarcoma of the falciform ligament: a case report

Background  

Low grade fibromyxoid sarcomas (LGFMS) are very rarely seen. They commonly arise from deep soft tissues of the lower extremities. Very few cases of intra-abdominal location have been reported.