ADULT-ONSET HYPOPHOSPHATASIA: BEFORE AND AFTER TREATMENT WITH ASFOTASE ALFA.

OBJECTIVE: To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa. METHODS: Clinical and laboratory data are presented. RESULTS: This is a unique report of a woman with debilitating adult-onset hypophosphatasia who was successfully diagnosed with low alkaline phosphatase (ALP) levels and elevated vitamin B6 levels. Treatment with asfotase alfa resolved her chronic bony pain symptoms and quadrupled her daily pedometer step count. Furthermore, whole body scans before and after treatment showed less focal uptake overall, suggesting fracture healing after enzyme replacement therapy. CONCLUSION: Improvement in patient reported symptoms, daily pedometer count, and whole body scans was noted after treatment of adult-onset hypophosphatasia with asfotase alfa enzyme replacement therapy. The significance of increased ALP levels after treatment is currently unknown.

Progressive Micromodulation of Interlayer Coupling in Stacked WS2/WSe2 Heterobilayers Tailored by a Focused Laser Beam.

When a vertically stacked heterobilayer comprising of a WSe2 monolayer on a WS2 monolayer is first fabricated, the heterobilayer behaves like two independent monolayers because of the presence of a large interlayer separation. However, after the stacked heterobilayer is subjected to a focused laser treatment, the interlayer separation between the two monolayers becomes progressively reduced which transforms the WS2/WSe2 heterostructure from the noncoupling to the strongly coupling regime. This strong coupling induces the charge transfer between two layers and thus lowers the exciton recombination rate in the individual layer. This changes the optical properties of the heterobilayer from a fluorescence-active species into one where the fluorescence is quenched. The focused laser beam scanning method is therefore able to serve as a localized annealing tool to progressively modulate the interlayer separation and enable the micropatterning of the heterobilayer to achieve distinct regions with different degrees of fluorescence quenching. Systematic studies are carried out to gain an insight into the mechanism involved in the onset of the interlayer coupling in the material. Our method is also successfully extended to a WS2/WS2 homobilayer structure.

Cushing's storm secondary to a rare case of ectopic ACTH secreting metastatic breast cancer.

UNLABELLED: Ectopic ACTH secretion from breast cancer is extremely rare. We report a case of a 30-year-old woman with a history of breast cancer, who presented with psychosis and paranoid behaviour. CT of the head showed white matter disease consistent with posterior reversible encephalopathy syndrome (PRES). Despite using mifepristone with multiple antihypertensives including lisinopril, spironolactone and metoprolol, she was hypertensive. Transaminitis did not allow mifepristone dose escalation and ketoconazole utilization. Etomidate infusion at a non-sedating dose in the intensive care unit controlled her hypertension and cortisol levels. She was transitioned to metyrapone and spironolactone. She was discharged from the hospital on metyrapone with spironolactone and underwent chemotherapy. She died 9 months later after she rapidly redeveloped Cushing's syndrome and had progressive metastatic breast cancer involving multiple bones, liver and lungs causing respiratory failure. LEARNING POINTS: Cushing's syndrome from ectopic ACTH secreting breast cancer is extremely rare.Cushing's syndrome causing psychosis could be multifactorial including hypercortisolism and PRES.Etomidate at non-sedating doses in intensive care setting can be effective to reduce cortisol production followed by transition to oral metyrapone.