Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas

Introduction: Pheochromocytomas and paragangliomas are derived from neural crest cells and are localized mainly in adrenal medulla and sympathetic or parasympathetic ganglia. They can be inherited (25%) and be part of multi-endocrine syndromes such as MEN2 syndrome, von Hippel-Lindau syndrome, pheochromocytoma/paraganglioma syndrome, neurofibromatosis type 1, and Sturge-Weber syndrome. Clinical presentation can sometimes be atypical and does not always allow proper diagnosis. In such situations, DNA analysis can be helpful, especially when the pheochromocytoma is the first and only symptom. Material and methods: We analyzed DNA from 60 patients diagnosed and treated in the Centre of Oncology with a diagnosis of pheochromocytoma or paraganglioma. DNA analysis was carried out for RET (exons 10, 11, 13, and 16), SDHB, SDHD, and VHL genes. Techniques used for the analysis were direct sequence analysis, MSSCP, and RFLP. Results: Germinal mutations were found in 16 patients (26,7%). Most frequent were mutations in RET proto-oncogene, followed by VHL gene, one mutation in SDHB, and one in SDHD genes. A comparison of some of the clinical features of both groups (with and without mutation) showed statistically significant differences. Conclusions: The results of our study show that genetic predisposition is frequent in chromaffin tissue tumours, which indicates that DNA analysis is necessary in every case, also because of possible atypical clinical presentation. (Pol J Endocrinol 2010; 61 (1): 43-48)Wstęp: Guzy chromochłonne i nerwiaki przyzwojowe wywodzą się z komórek grzebienia nerwowego i zlokalizowane są głównie w rdzeniu nadnerczy oraz w zwojach autonomicznych współczulnych i przywspółczulnych. Mogą one (25%) stanowić składnik zespołów wielogruczołowych, takich jak zespół MEN2, zespół von Hippela-Lindaua, zespół mnogich guzów chromochłonnych i nerwiaków przyzwojowych (PPS, pheochromocytoma/paraganglinoma syndrome), a także nerwiakowłókniakowatości typu 1 czy zespołu Sturge-Webera. Nie zawsze obraz kliniczny pozwala jednoznacznie określić rodzaj zespołu, dlatego badanie DNA może być pomocne w ustaleniu rozpoznania. Celem pracy była ocena częstości występowania dziedzicznie uwarunkowanych guzów chromochłonnych i przyzwojaków u zgłaszanych jako pierwszy objaw. Materiał i metody: Przeanalizowano DNA pochodzące od 60 chorych leczonych i diagnozowanych w Centrum Onkologii z powodu guza chromochłonnego i nerwiaków przyzwojowych. Przeprowadzono analizę DNA w zakresie następujących genów: RET (eksony 10, 11, 13 i 16), SDHB, SDHD i VHL. Wykorzystywano sekwencjonowanie DNA, analizę MSSCP oraz analizę restrykcyjną. Wyniki: Mutacje germinalne znaleziono u 16 chorych (26,7%). Najczęstsze były mutacje w genie RET, następnie w genie VHL oraz po jednej mutacji w genach SDHB i SDHD. Analiza danych klinicznych chorych będących nosicielami mutacji wykazała znamienne statystycznie różnice w porównaniu z grupą chorych z guzami sporadycznymi. Wnioski: Przeprowadzone badania wskazują na częsty udział predyspozycji dziedzicznej w wystąpieniu guzów chromochłonnych, co wskazuje na konieczność wykonywania badania DNA w każdym przypadku, także ze względu na możliwość nietypowego przebiegu klinicznego, zwłaszcza w grupie chorych w wieku 20–40 lat. (Endokrynol Pol 2010; 61 (1): 43-48

Influence of the Size of Damage to the Steel Wire Rope on the Magnetic Signature

This article presents diagnostic tests of wire ropes using passive magnetic methods. The study used two types of wire ropes with different constructions and diameters. Defects of various depths were modeled in the ropes, which reflected the degree of loss of metallic cross-section. After a series of measurements, a correlation was observed between the amplitude of the module signal and the degree of damage to the rope. The signals were recorded with the advantage of the SpinMeter-3D magnetometer. The obtained results were subjected to the extraction of features, the analysis of which allowed the damage to be identified

Dynamic Diagnostic Tests and Numerical Analysis of the Foundations for Turbine Sets

This paper shows current trends in testing and numerical analysis of dynamic loading in relation to a real frame foundation for a turbogenerator set. The analysis of the machine’s foundations, which are subjected to static and dynamic loads, is a complex problem combining the issues of geotechnics, structural engineering, and vibration theory. The authors present a case study of the assessment of the foundation’s technical condition. The main objective of this study is to perform and compare experimental and numerical dynamic analysis which includes the measurement of the acceleration, speed, and amplitude of the natural vibrations of the foundation during the operational speed of the turbogenerator. In addition, auxiliary material tests were carried out to fully diagnose the foundation and obtain the material properties required for the numerical analysis. They included both destructive and non-destructive of concrete strength, the evaluation of the degree of its carbonation, and the scanning of the reinforcement distribution. The research presented in the paper is intended to facilitate the preparation of appropriate data for the design of the foundation renovation and strengthening

Detecting Discontinuities in Steel Wire Ropes of Personal Lifts Based on the Analysis of Their Residual Magnetic Field

Steel wire rope is essential to many rope transport devices. As steel ropes are used, they become damaged, the identification of which is often very difficult or time-consuming. The criteria for retiring steel wire ropes are rigorous—sometimes, ropes that remain fit for further operation are replaced. This article aims to define a novel method of identifying the condition of steel ropes based on their residual magnetic field measurements and their potential use in other industries in the event of damage. This article presents a methodology for detecting discontinuities in steel ropes, which allows for determination of their suitability for further operation. The work uses a rope as a load-bearing element of a personal lift. The initial signal was recorded with a SpinMeter-3D magnetometer. The obtained results were subjected to the extraction of features, the analysis of which allowed identifying the damage. The obtained results enable us to conclude that this procedure is crucial in the context of sustainable development

Selected aspects of diagnostics of components of methane-fueled internal combustion engines

The article describes the topics related to selected components of the internal combustion engine, which are key from the point of view of operational diagnostics. The degree of wear, degradation, noticed damage or symptoms of deficiencies of selected elements or technological systems have an impact on the achieved operating parameters. The above phenomena also affect the economics of the device's operation and the possibility of its components failing.W artykule opisano tematykę związaną z wybranymi elementami silnika spalinowego, które są kluczowymi z punku widzenia diagnostyki eksploatacyjnej. Stopień zużycia, degradacji, zauważone uszkodzenia lub objawy niedomagań wytypowanych poszczególnych elementów lub układów technologicznych mają wpływ na osiągane parametry eksploatacyjne. Powyższe zjawiska mają także wpływ na ekonomikę pracy urządzenia oraz możliwość awarii jego podzespołów