The two index patients of the family analyzed in this study had undergone bilateral adrenalectomy for pheochromocytomas. This prompted genetic analyses of the probands and seven first-degree relatives. The two pheochromocytoma patients and two additional asymptomatic family members were found to harbor a mutation c496G>T in exon 3 of the VHL gene. The family was then lost to systematic follow-up. Three years after performing the initial genetic evaluation, the sister of the probands, who was known to carry the same VHL germline mutation, was referred to our service after a pregnancy that was complicated by preeclampsia. She reported paroxysms suggestive for pheochromocytoma, but her urinary metanephrines were negative. However, computerized tomography of the abdomen showed an adrenal mass that was also positive on metaiodobenzylguanidine (MIBG) scintigraphy. This study illustrates that molecular analysis of the index patient(s) can lead to the identification of presymptomatic relatives carrying the mutation. Moreover, despite negative urinary metanephrines, the identification of a specific mutation has led to an increased suspicion and detection of a pheochromocytoma in the sister of the probands. Dois pacientes índices da família analisada neste estudo foram submetidos a adrenalectomia bilateral devido a feocromocitoma. Foi, então, realizado o estudo genético dos pacientes e de sete parentes de primeiro grau. Os dois pacientes com feocromocitoma e dois outros membros assintomáticos da família apresentaram a mutação c496G>T no exon 3 do gene VHL. A família perdeu seguimento médico. Três anos após a realização da avaliação genética, a irmã dos pacientes, portadora da mutação, foi encaminhada para o nosso serviço após uma gestação complicada por pré-eclampsia. Ela referia paroxismos sugestivos de feocromocitoma, mas as metanefrinas urinárias eram negativas. Entretanto, a tomografia computadorizada de abdômen evidenciou uma massa adrenal que também se contrastou na cintilografia com metaiodobenzilguanidina (MIBG). Esse estudo mostra que a análise molecular do paciente índice pode levar à identificação de parentes assintomáticos portadores da mutação. Além disso, mesmo com as metanefrinas urinárias negativas, a identificação de uma mutação específica levou a um aumento da suspeita e detecção de feocromocitoma na irmã dos afetados pela doença.
SUMMARY Little is known about the effects of in-office bleaching on the surface properties and on other aspects of CAD-CAM monolithic materials, especially when successive bleaching sessions are conducted. This study evaluated the effect of up to three successive in-office bleaching sessions on the microhardness, roughness, topography, substance loss, biaxial flexural strength (BFS), and reliability of CAD-CAM monolithic materials. Disks from Lava Ultimate (LU), Vita Enamic (VE), and IPS Empress CAD (EMP) were fabricated and submitted to one, two, and three bleaching sessions. In-office bleaching was performed with 40% hydrogen peroxide and each session consisted of three applications of 20 minutes each. The analyses regarding the aforementioned parameters were assessed before and after the first, second, and third bleaching sessions, except for BFS, which was evaluated at the baseline and after the third session. Weibull modulus was calculated from the BFS data. Bleaching decreased the microhardness of LU and VE from the third and second sessions, respectively, and affected neither the roughness nor the BFS of the three materials. However, in LU, it decreased the reliability and caused topographic changes, which were accentuated by the increase in the number of sessions. In general, LU and EMP showed, respectively, the highest and the lowest substance losses. Successive in-office bleaching sessions with the use of the protocol of the present study should be avoided in LU and VE.
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