[Dermatomyositis as a paraneoplastic syndrome of head-neck-cancer: Case series & literature review]. / Dermatomyositis als paraneoplastisches Syndrom bei Kopf-Hals-Malignomen: Fallserie & Literaturreview.

INTRODUCTION: Dermatomyositis (DM) is a rare disease with the clinical manifestation of weakness and pain of proximal muscles as well as lilac-coloured skin lesions. One fifth of the cases is associated with the occurrence of a malignant tumor disease. The aim of this study is to evaluate the relevance of DM as a paraneoplastic syndrome in head and neck cancer taken into account the current literature. MATERIAL/METHODS: After retrospective analysis of medical records of head-neck-cancer patients treated between 2008 and 2018, 8 patients with DM were detected: 4 patients with tonsil carcinoma, 1 patient with nasopharyngeal carcinoma, 1 patient carcinoma of the parotid gland and two patients with lymphoma. The diagnosis, therapy and treatment results of these cases are described. Furthermore, a selective analysis of the literature (pubmed) about DM with head-neck cancer was conducted. A total of 290 cases were identified: In 283 cases, the tumors were located in the nasopharynx, in five cases in the tonsil and in two cases in the hypopharynx. CONCLUSION: DM as a paraneoplastic syndrome of head and neck tumors is rare and more often associated with nasopharyngeal cancer and rarely with tonsil cancer. The clustering of DM with head and neck tumors regarding ethnicity (nasopharyngeal carcinoma - Asian origin, tonsillar carcinoma- Caucasian origin) might be due to the regional different incidences of these tumor entities.In patients with DM, especially in presence of cervical lymphadenopathy a tumor in the head and neck area should be evaluated. The course of tumor-associated DM is positively influenced by tumor therapy. The consistent therapy and monitoring of DM is fundamental for a successful tumor treatment as well.

Comparing two types of engineering visualizations: task-related manipulations matter.

This study focuses on the comparison of traditional engineering drawings with a CAD (computer aided design) visualization in terms of user performance and eye movements in an applied context. Twenty-five students of mechanical engineering completed search tasks for measures in two distinct depictions of a car engine component (engineering drawing vs. CAD model). Besides spatial dimensionality, the display types most notably differed in terms of information layout, access and interaction options. The CAD visualization yielded better performance, if users directly manipulated the object, but was inferior, if employed in a conventional static manner, i.e. inspecting only predefined views. An additional eye movement analysis revealed longer fixation durations and a stronger increase of task-relevant fixations over time when interacting with the CAD visualization. This suggests a more focused extraction and filtering of information. We conclude that the three-dimensional CAD visualization can be advantageous if its ability to manipulate is used.

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

Primary hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by profound hypomagnesemia associated with hypocalcemia. Pathophysiology is related to impaired intestinal absorption of magnesium accompanied by renal magnesium wasting as a result of a reabsorption defect in the distal convoluted tubule. Recently, mutations in the TRPM6 gene coding for TRPM6, a member of the transient receptor potential (TRP) family of cation channels, were identified as the underlying genetic defect. Here, the results of a TRPM6 mutational analysis of 21 families with 28 affected individuals are presented. In this large patient cohort, a retrospective clinical evaluation based on a standardized questionnaire was also performed. Genotype analysis revealed TRPM6 mutations in 37 of 42 expected mutant alleles. Sixteen new TRPM6 mutations were identified, including stop mutations, frame-shift mutations, splice-site mutations, and deletions of exons. Electrophysiologic analysis of mutated ion channels after heterologous expression in Xenopus oocytes proved complete loss of function of TRPM6. Clinical evaluation revealed a homogeneous clinical picture at manifestation with onset in early infancy with generalized cerebral convulsions. Initial laboratory evaluation yielded extremely low serum magnesium levels, low serum calcium levels, and inadequately low parathyroid hormone levels. Treatment usually consisted of acute intravenous magnesium supplementation leading to relief of clinical symptoms and normocalcemia, followed by lifelong oral magnesium supplementation. Serum magnesium levels remained in the subnormal range despite adequate therapy. This is best explained by a disturbed magnesium conservation in the distal convoluted tubule, which emerged in all patients upon magnesium supplementation. Delay of diagnosis resulted in permanent neurologic damage in three patients.