Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates

Context: Tumoral calcinosis is a disorder of phosphate metabolism characterized by ectopic calcification around major joints. Surgery is the current treatment of choice, but a suboptimal choice in recurrent and multicentric lesions. Aims: To evaluate the efficacy of bisphosphonates for the management of tumoral calcinosis on optimized medical treatment. Settings and Design: The study was done in the endocrine department of a tertiary care hospital in South India. We prospectively studied two patients with recurrent tumoral calcinosis who had failed therapy with phosphate lowering measures. Materials and Methods: After informed consent, we treated both patients with standard age adjusted doses of bisphosphonates for 18 months. The response was assessed by X ray and whole body 99mTc-methylene diphosphonate bone scan at the beginning of therapy and at the end of 1 year. We also estimated serum phosphate levels and urinary phosphate to document serial changes. Results: Two patients (aged 19 and 5 years) with recurrent idiopathic hyperphosphatemic tumoral calcinosis, following surgery were studied. Both patients had failed therapy with conventional medical management − low phosphate diet and phosphate binders. They had restriction of joint mobility. Both were given standard doses of oral alendronate and parenteral pamidronate respectively for more than a year, along with phosphate lowering measures. At the end of 1 year, one of the patients had more than 95% and 90% reduction in the size of the lesions in right and left shoulder joints respectively with total improvement in range of motion. In contrast, the other patient (5-year-old) had shown no improvement, despite continuing to maintain normophosphatemia following treatment. Conclusions: Bisphosphonate therapy in tumoral calcinosis is associated with lesion resolution and may be used as a viable alternative to surgery, especially in cases with multicentric recurrence or treatment failure to other drugs

Radioiodine therapy in patients with Graves′ disease and the effects of prior carbimazole therapy

The use of radioiodine as the first line of treatment in Graves′ disease is restricted in India because of its limited availability and an unrealistic risk perception associated with it. Additionally, the effectiveness of radioiodine ablation in Graves′ disease is influenced by many factors. Prior medical antithyroid therapy is one such important factor. Aims: To analyze the efficacy of low dose radioiodine therapy (5 mCi) in treatment of naive patients of Graves′ disease in comparison to that in which it was already primed with an antithyroid drug, carbimazole. Settings and Design: A non-randomized, interventional study conducted in the Department of Medicine and Endocrinology of a tertiary care institute in South India. Materials and Methods: The study had two groups; Group A (36 treatment naive, uncomplicated Graves′ disease patients) and B (34 Graves′ disease patients on carbimazole prior to radioiodine therapy). Both groups had baseline clinical, biochemical evaluation and were reassessed at 3 and 6 months for evaluating the clinical status for possible documentation of cure. Results: The cure rate was 61.1% in drug naive group and 58.8% in pretreated group at 6 months following radioiodine (P = 0.845). Higher baseline 999m technicium (99m Tc) uptake, male gender, BMI and higher baseline free thyroxine (fT4) level predicted treatment failure following radioiodine therapy. Conclusions: Administration of carbimazole prior to low dose radioiodine therapy does not alter the efficacy of radioiodine. Low fixed dose (5 mCi) of radioactive iodine may be a safe and effective primary therapeutic option in Graves′ disease patients pretreated with antithyroid drugs

Sarcomatoid squamous cell carcinoma of uterine cervix: Pathology, imaging, and treatment

Sarcomatoid squamous cell carcinoma of the cervix is a rare tumor. Only 16 cases have so far been reported in literature. We report here one such tumor occurring in a 54-year-old postmenopausal woman. Our case report describes the clinical, pathological, and PET scan characteristics of this tumor. The patient was treated with concurrent chemoradiotherapy and is disease free at 6-months follow-up

Sarcomatoid squamous cell carcinoma of uterine cervix: Pathology, imaging, and treatment

Sarcomatoid squamous cell carcinoma of the cervix is a rare tumor. Only 16 cases have so far been reported in literature. We report here one such tumor occurring in a 54-year-old postmenopausal woman. Our case report describes the clinical, pathological, and PET scan characteristics of this tumor. The patient was treated with concurrent chemoradiotherapy and is disease free at 6-months follow-up

Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.

The sodium-iodide symporter (NIS, SLC5A5) is expressed at the basolateral membrane of the thyroid follicular cell, and facilitates the thyroidal iodide uptake required for thyroid hormone biosynthesis. Biallelic loss-of-function mutations in NIS are a rare cause of dyshormonogenic congenital hypothyroidism. Affected individuals typically exhibit a normally sited, often goitrous thyroid gland, with absent uptake of radioiodine in the thyroid and other NIS-expressing tissues. We report a novel homozygous NIS mutation (c.1067 C>T, p.S356F) in four siblings from a consanguineous Indian kindred, presenting with significant hypothyroidism. Functional characterization of the mutant protein demonstrated impaired plasma membrane localization and cellular iodide transport.MR