Fibrodysplasia Ossificans Progressiva: A Case Report with Pseudo-Ankylosis of the Temporomandibular Joint.

Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterized by progressive heterotopic ossifications and congenital hallux valgus deformities. The common underlying genetic cause is an ACVR1 mutation, resulting in altered bone morphogenetic protein (BMP) regulation. Trauma and/or minor procedures aggravate the abnormal bony formation in soft tissues. This report presents a 3-year-old child with this condition who presented pseudo-ankylosis of the temporomandibular joint (TMJ) after minor craniofacial trauma. Abnormal ossification in the medial pterygoid muscle was identified as the causative abnormality for the presentation with trismus.

Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.

Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7.

Impact of geographic location on surgical outcomes of women with breast cancer.

BACKGROUND: The aim of this study is to use the Breast Surgeons of Australia and New Zealand Quality Audit to evaluate the diagnostic work up and surgical treatment path for Australian women with early breast cancer in relation to geographic location. METHODS: We accessed data on patient geographic demographics, diagnostic and surgical procedures and cancer characteristics in 115,872 episodes of early breast cancer reported to the Quality Audit between 1998 and 2012. Tumour size, grade and number, lymph node positivity and lymphovascular invasion are the major prognostic factors adjusted for. RESULTS: Core biopsy is the most frequently performed diagnostic method and open biopsy the least (P=0.001). Remote locations have the highest proportion of open biopsies and cities the lowest (13.8 versus 9.8%, P=0.001). The outer regional/remote patient group has a higher likelihood of an open biopsy than city patients (odds ratio 1.5; 95% confidence interval 1.1-2.2 P=0.02). Reconstruction rates are low throughout ranging from 3 to 4% (P=0.001). Cities have the highest proportion of no surgery (1.5%, P=0.001). Cities have the highest proportion of breast conserving surgery and the remote the lowest (64.5% versus 29.9%, P=0.001). Outer regional locations have the highest proportion of mastectomies and cities the lowest (38 versus 29.9%, P=0.001). The likelihood of receiving radiotherapy is associated with geographic location of residence and geographic distribution of the radiotherapy facility (P=0.002, P=0.001). CONCLUSION: Geographic location of residence is associated with the diagnostic work up and surgical treatment of Australian women with early breast cancer.

Surgical treatment for women with breast cancer in relation to socioeconomic and insurance status.

Based on the National Breast Cancer Audit of the Royal Australasian College of Surgeons an association between patient age and type of breast cancer surgery received has already been demonstrated. The aim of this study is to assess the patterns of surgical treatment for women with early breast cancer in relation to socioeconomic and insurance status. Data on patient demographics, diagnostic, and surgical procedures and cancer characteristics in 115,872 episodes of early breast cancer reported to the National Breast Cancer Audit between 1998 and 2012 is used for this study. Tumor size, histologic grade, number of tumors, lymph node positivity, and lymphovascular invasion are the major prognostic factors adjusted for. Reconstruction following mastectomy is the most likely surgical procedure for the higher socioeconomic and privately insured patients. Mastectomy alone is the most likely surgical procedure for the lower socioeconomic and for public patients. No surgery is the most likely surgical outcome for the lower socioeconomic and the least likely for the higher socioeconomic population. Open biopsy is the most likely diagnostic procedure for the lower socioeconomic and fine needle aspiration for the higher socioeconomic population. Socioeconomic and insurance status, are both independently associated with the types of treatment and diagnostic procedure for women with breast cancer. Opportunities present to investigate an association of these factors with morbidity and survival outcomes.