Turner Syndrome Mosaicism after Diagnosis of Coeliac Disease-A High Index of Clinical Suspicion Required?

The association of coeliac disease (CD) in girls with Turner syndrome (TS) is well described. There is, however, a paucity of current research describing TS in patients with known CD. We report two cases of mosaic Turner syndrome diagnosed in girls with CD who failed to achieve expected catch-up growth despite strict adherence to a gluten-free diet (GFD) and the normalisation of TGA-IgA levels. We highlight the need to consider additional diagnoses in patients with CD and ongoing faltering growth. In such patients, referral to a paediatric endocrinologist and relevant investigations, including genetic investigations, should be considered if growth remains suboptimal after one year with a GFD. First-line investigations should include thyroid function, IGF-1, cortisol, gonadotrophins, oestrogen/testosterone, prolactin, karyotype and a bone age X-ray. Clinical suspicion in this situation is key, as an early diagnosis of TS will allow timely treatment with growth hormone, inform discussion around ovarian function and allow screening for important TS associations.

Squamous cell carcinoma of the lip: a retrospective review of the Peter MacCallum Cancer Institute experience 1979-88.

BACKGROUND: Squamous cell carcinoma (SCC) of the lower lip is a common malignancy in Australia. Surgical excision and/or radiotherapy are used in treatment, and are regarded as equally effective. METHODS: A retrospective review of 323 patients treated at the Peter MacCallum Cancer Institute with either surgical excision and/or radiotherapy, evaluated disease recurrence, cause-specific mortality, and the incidence of metachronous lesions. RESULTS: Recurrence-free survival at 10 years was estimated to be 92.5%, and cause-specific survival at 10 years was estimated to be 98.0%. Equivalent rates of local control were obtained with surgery and radiotherapy. Recurrence was related to tumour stage and differentiation. A high incidence of metachronous lesions was noted, 25 patients had a lesion prior to presentation and 33 patients developed second lip lesions during the study period. CONCLUSIONS: Squamous cell carcinoma of the lower lip is well treated with surgery or radiotherapy. The preferred treatment for most patients with SCC of the lower lip in the Australian population is surgical excision. This study has shown a significant incidence of metachronous lip neoplasia, except in those patients whose whole lip had been resurfaced.

Vascular effects of PTHrP (1-34) and PTH (1-34) in the human fetal-placental circulation.

The aim of this study was to examine the vasodilatory effects of parathyroid hormone-related protein (PTHrP) (1-34) and parathyroid hormone (PTH) (1-34) on the human fetal-placental circulation utilising an in vitro placental perfusion model. In all experiments, the vasculature of an isolated human placental cotyledon was pre-constricted with the thromboxane A2 mimetic U46619. A simple dose of PTHrP (1-34) or PTH (1-34) (1.7-300 nM) was then infused into the fetal-placental circulation of the cotyledon. In other experiments, cotyledons were repeatedly infused with PTHrP (1-34) or PTH (1-34) (51.3 nM). Vasodilatory responses were significantly reduced in response to repeated exposure to PTHrP (1-34) (P < 0.001), indicating that this peptide desensitizes the fetal-placental vasculature. PTHrP (1-34) and PTH (1-34) equipotently stimulated a significant vasodilation of the fetal-placental circulation (P < 0.0001). The PTHrP receptor antagonist [Asn10, Leu 11]PTHrP (7-34) (102 nM) was infused in U46619-constricted placentae in the presence and absence of PTHrP (1-34) (10.2 nM). The PTHrP antagonist alone had no significant effect in the fetal-placental circulation. The antagonist significantly attenuated the response to PTHrP (1-34) (P < 0.015). Based on the data obtained in this study it is suggested that locally produced PTHrP (1-34) may be involved in the regulation of normal human fetal-placental vascular tone in autocrine and/or paracrine fashion.

Scalp replantation by arterialised venous network flow-through.

A successful clinical case of scalp replantation is presented where a suitable artery could not be identified in the amputated part. Reperfusion of the flap was achieved by an arteriovenous inflow anastomosis and a conventional venous anastomosis for drainage. The aesthetic and physiological success of this case suggests that arteriovenous scalp replantation is a potential avenue for treatment where arterio-arterial repair is not possible. The possible explanation for the success in this patient is the paucity of valves that exist in the venous network of the scalp and forehead, noted in our previous anatomical studies. Knowledge of the replanted tissue venous architecture provides an anatomical basis to understand the potential limitations of arteriovenous replantation.