Femoral Neck Fracture in a Pediatric Patient with Primary Hyperparathyroidism.

Case: A previously healthy 11-year-old girl underwent expedited surgical fixation of a femoral neck fracture sustained while jump-roping. After further work up, she was diagnosed with primary hyperparathyroidism. Parathyroidectomy of a hypertrophic adenoma proved curative. Now, five months post left hip surgery, the patient is pain-free and walks without a limp. Conclusion: We describe the first published case of primary hyperparathyroidism presenting as a pathologic hip fracture in a child. Although presentation with a fracture is exceedingly rare, bone pain is a frequent complaint of pediatric hyperparathyroidism. Orthopedic surgeons may find themselves the front-line caregivers for the condition.

Comprehensive molecular profiling of pancreatic ductal adenocarcinoma in FNA, biopsy, and resection specimens.

BACKGROUND: Molecular testing to identify molecular alterations in pancreatic ductal adenocarcinoma (PDAC) has been increasingly requested because of potential therapeutic implications. In this study, we compared the performance of PDAC fine-needle aspiration (FNA), fine-needle biopsy (FNB), and resection specimens for comprehensive molecular analysis. METHODS: A next-generation sequencing-based Oncomine Comprehensive Assay (OCA) was used to analyze molecular alterations in FNA, FNB, or resection specimens. We examined adequacy and success rates for completion of molecular testing and catalogued molecular alterations in these specimen types. RESULTS: The cohort included 23 FNA, 20 FNB, and 27 resection cases. Gene mutation or amplification analysis was successful in 18 (78%) FNA and 16 (80%) FNB specimens, whereas gene fusion assessment succeeded in 12 (52%) FNA and 12 (60%) FNB samples. All 27 (100%) resection specimens were adequate for complete OCA. There were significant differences in success rates for mutation and amplification analysis between resection and FNA or FNB specimens (P < .01) but not between FNA and FNB samples (P > .05). Manual microdissection was less likely to be performed for FNA specimens than FNB or resection specimens (P < .01). KRAS mutation was the most common mutation identified (90%), followed by mutations in TP53 (64%), CDKN2A (25%), and SMAD4 (15%) genes. CONCLUSIONS: Our study demonstrated similar success rates for comprehensive molecular analysis using FNA and FNB specimens of PDAC, suggesting that FNA material could serve as an alternative source for comprehensive molecular testing. The molecular alterations identified in these specimens may have potential diagnostic and therapeutic implications.

Functional activity of a thyroid nodule under the influence of stable iodide administration in a hyperthyroid patient.

In a thyrotoxic patient with nodular goiter treated with stable iodide and Carbimazole, a series of 131I scans was performed at different intervals for proposed 131I therapy. Originally, total uptake was suppressed and the node was evaluated as active. The same type of scan was seen repeatedly with uptake increasing for about 6 months following stable iodide withdrawal. Only 9 months later, the effect of 127I disappeared and uptake rose considerably with a reversal of the scan to the picture of a hypofunctioning node. The same distribution was found after therapeutic 131I administration. 6 months following treatment, without any thyrostatic drugs, the patient was euthyroid and on the scan most of tracer was found in the node. It is believed that this change is best explained by the different sensitivity of the nodule and the paranodular tissue to the effect of stable iodide. It is believed that the hyperthyroidism originated in the paranodular tissue highly sensitive on the 127I, while the nodule (presumably an adenoma) was less sensitive and showed uptake only when the paranodular tissue was depressed by 127I or, later, injured by the effect of therapeutic 131I.

Differentiated thyroid cancer following radioiodide 131I therapy of hyperthyroidism--a case report.

Differentiated (papillary) thyroid cancer was detected 17 years following radioiodide 131I treatment for toxic multinodular goiter. 21 cases of thyroid cancers with previous 131 I therapy for hyperthyroidism were summarised. This combination is rare compared to the incidence of thyroid cancers following external irradiation. This may be due to higher absorbed dose to thyroid in 131I treatment.

Familial occurrence of differentiated (non-medullary) thyroid cancer.

Differentiated thyroid cancers were found in mother and son. The diagnosis was made first in the boy where papillary and follicular cancer with lymph node involvement and lung metastatic dissemination was diagnosed at the age of 9. Treatment by surgery, radioiodine and thyroid hormones was highly effective. 1 year later, thyroid surgery was performed on his mother but the diagnosis of poorly differentiated follicular thyroid cancer was made only 4 years later when the primary tumour was already unresectable and distant metastases present. In spite of treatment, the disease followed a lethal course in the mother. The familial occurrence of differentiated thyroid cancer is extremely rare and this report is the first where neither previous radiation exposure nor familial colonic polyposis were detected.

The role of age in the development of hypothyroidism after treatment with radoiodine.

The authors have studied the role of age in the development of posttherapeutic hypothyroidism in 141 patients treated with radioiodine for thyrotoxicosis. The minimum time of the follow up after treatment was 10 years. The patients were divided into two groups according to age at which the treatment was administered. The critical age was 55. The incidence of posttherapeutic hypothyroidism was significantly greater in the elderly patients. There was a gradual increase of incidence of posttherapeutic hypothyroidism during the 10 year follow up. The dangers of the thyroid treatment in the elderly hypothyroid patients with persisting cardiac involvement may be reduced by a concomitant administration of beta blocking agents.