Metastatic parathyroid carcinoma treated with radiofrequency ablation: A novel therapeutic modality

Parathyroid carcinoma (PCA), accounting for less than one per cent of all endocrine malignancies, is a rare cause of primary hyperparathyroidism. A diagnosis of parathyroid carcinoma may be challenging in the presence of localised disease and involves a histological diagnosis based on capsular, vascular, or perineural invasion or the presence of metastasis. Distant metastasis remains a rare presentation, with the lung being the most common site. Surgery remains the treatment of choice as radiotherapy and chemotherapy have proved to be of limited benefit in metastatic disease. This case reports suggests that radiofrequency ablation has the potential to be a novel and effective treatment option in these patients.     

A Novel Frameshift Mutation in TWIST2 Gene Causing Setleis Syndrome

The authors report on a child with Setleis syndrome (OMIM 227260). She is born to a consanguineous couple with bitemporal scar like defects resembling forceps marks. She had other classical features resembling autosomal recessive Setleis syndrome. The authors identified a novel homozygous deletion of a single nucleotide (c.91delC) in TWIST2 gene leading to the premature truncation of protein (p.R31GfsX71). Umbilical hernia and genital anomalies are being reported for the first time with this condition. This is the fourth mutation proven family of Setleis syndrome.     

What Do Patients Want?

PURPOSE: Clinicians often make decisions for their patients, despite evidence that suggests that correspondence between patient and clinician decision making is poor. The management of colorectal cancer presents difficult decisions because the impact of treatment on quality of life might overshadow its survival efficacy. This study investigated whether patients are able to trade survival for quality of life as a means to express their preference for treatment options and to compare their preferences with those expressed by clinicians. METHODS: Patients undergoing curative surgery for colorectal cancer were interviewed postoperatively to elicit their preferences in four hypothetical treatment scenarios. A questionnaire was mailed to all Australian colorectal surgeons and medical oncologists that asked them to respond as if they themselves were patients. RESULTS: One hundred patients (91 percent), 43 colorectal surgeons (77 percent), and 103 medical oncologists (50 percent) participated. In all four scenarios, patients were able to trade survival for quality of life. Patients' responses varied between scenarios, both in willingness to trade and the average amount traded. There were significant differences between patients and clinicians. Clinicians were more willing than patients to trade survival to avoid a permanent colostomy in favor of chemoradiotherapy. Patients' strongest preference was to avoid chemotherapy, more than to avoid a permanent colostomy. CONCLUSIONS: Patients are able to trade survival as a measure of preference for quality of life and can do so differentially between treatment scenarios. Patients' preferences do not always accord with those of clinicians. Unless patients' preferences are explicitly sought and incorporated into clinical decision making, patients may not receive the treatment that is best for them.