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91.
Sounak Gupta Rafael E. Jimenez Loren Herrera-Hernandez Christine M. Lohse R. Houston Thompson Stephen A. Boorjian Bradley C. Leibovich John C. Cheville 《Mayo Clinic proceedings. Mayo Clinic》2021,96(6):1470-1489
ObjectiveTo study the clinical features and identify unique renal neoplasia subtypes and their prognostic implications in individuals with tuberous sclerosis complex (TSC).Patients and MethodsThe Mayo Clinic nephrectomy registry included 37 patients with TSC diagnosed between 1970 and 2018. Four additional patients were identified from the pathology consultation and autopsy files. All available renal tumors were further characterized using immunohistochemistry and fluorescence in situ hybridization. Clinicopathologic features and follow-up were obtained from the medical record. The American Association for Cancer Research Project GENIE registry was accessed using cBioPortal for molecular profiling of angiomyolipoma (AML).ResultsA total of 276 renal tumors from 41 patients were analyzed. Renal tumors were classified into 9 distinct morphological subtypes, with AML predominating (238 [86%]). Interestingly, all these tumors acted in a benign fashion except one renal cell carcinoma with clear cells and fibromyomatous stroma and one epithelioid AML that metastasized. Molecular profiling studies revealed that epithelioid AMLs were enriched for alterations of TP53, RB1, and ATRX. Eight patients died of direct complications of TSC, including 3 of end-stage renal disease. To date, none have died of a renal epithelial neoplasm.ConclusionThe identification of unique renal neoplasia subtypes may provide important clues to establish a diagnosis of TSC, and in the somatic setting, this finding has important implications for accurate prognostication. These tumors tend to be indolent, and only 2 of 276 tumors in our study exhibited metastatic behavior. Our results support multidisciplinary management with a focus on preservation of renal function. 相似文献
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ObjectivesA suicide attempt (SA) is a major risk factor of recurrent SA in adolescence and may be associated with psychological or social problems in the future. REPEATERS is a longitudinal study which examines the long-term psychosocial outcome of adolescents following attempted suicide. It focuses on the impact of early recurrence (i.e., within the first year of the index SA) – data which is, in fact, poorly documented.MethodsTen years after the index SA, a self-reporting questionnaire was sent to all adolescents who had attempted suicide and were followed up by the CHRU (Regional University Hospital Centre) de Nancy, France, between 1994 and 2003 and their parents. The purpose of this questionnaire was to assess psychosocial outcomes. Data concerning SA were collected retrospectively.ResultsAfter ten years, 146 of the 309 adolescents who had attempted suicide and were participating in the study had responded: 90% lived with a partner and 41% had children. The mean (SD) current emotional life of suicide attempt survivors scored 7.3 (2.3) on a scale of 0 to 10. Compared to the general population of the same age, responders felt more depressed than their peers (29% vs. less than 8% of males and 20% of females), had more suicidal thoughts (14% vs. 5%), and had more SAs (27% vs. 0.3%). Moreover, the risk of recurrence over the ten year period was associated with suicide recurrence in the first year after the index SA (odds ratio [OR] = 2.3; 95% confidence interval [CI] = 1.1–4.9) and with a lower level of education at ten years (OR = 0.37; 95% CI = 0.19–0.45).ConclusionsAlthough a favorable outcome was reported ten years after the event for the majority of adolescents who had attempted suicide, some with a lower level of education were nevertheless at increased risk of recurrence and depression. Post-intervention strategies are therefore essential in order to evaluate risk factors which may persist if not taken into consideration. 相似文献
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Collagens are the most abundant proteins in the extracellular matrix. They provide a framework to build organs and tissues and give structural support to make them resistant to mechanical load and forces. Several intra‐ and extracellular modifications are needed to make functional collagen molecules, intracellular post‐translational modifications of proline and lysine residues having key roles in this. In this article, we provide a review on the enzymes responsible for the proline and lysine modifications, that is collagen prolyl 4‐hydroxylases, 3‐hydroxylases and lysyl hydroxylases, and discuss their biological functions and involvement in diseases. 相似文献
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Antonio Montalvo Afonso Fernando Ruiz Juretschke Rosario González Rodrigálvarez Olga Mateo Sierra Begoña Iza Vallejo Roberto García Leal Marc Valera Melé Vicente Casitas Hernando Jose Manuel Hernández Poveda Carlos Fernández Carballal 《Neurocirugía (Asturias, Spain)》2021,32(1):1-9
Background and objectivesThe treatment of deafferentation pain by spinal DREZotomy is a proven therapeutic option in the literature. In recent years, use of DREZotomy has been relegated to second place due to the emergence of neuromodulation therapies. The objectives of this study are to demonstrate that DREZotomy continues to be an effective and safe treatment and to analyse predictive factors for success.Patients and methodsA retrospective study was conducted of all patients treated in our department with spinal DREZotomy from 1998 to 2018. Bulbar DREZotomy procedures were excluded. A visual analogue scale (VAS) and the reduction of routine medication were used as outcome variables. Demographic, clinical and operative variables were analysed as predictive factors for success.ResultsA total of 27 patients (51.9% female) with a mean age of 53.7 years underwent DREZotomy. The main cause of pain was brachial plexus injury (BPI) (55.6%) followed by neoplasms (18.5%). The mean time of pain evolution was 8.4 years with a mean intensity of 8.7 according to the VAS, even though 63% of the patients had previously received neurostimulation therapy. Favourable outcome (≥ 50% pain reduction in the VAS) was observed in 77.8% of patients during the postoperative period and remained in 59.3% of patients after 22 months average follow-up (mean reduction of 4.9 points). This allowed for a reduction in routine analgesic treatment in 70.4% of them. DREZotomy in BPI-related pain presented a significantly higher success rate (93%) than the other pathologies (41.7%) (p = .001). No association was observed between outcome and age, gender, DREZ technique, duration of pain or previous neurostimulation therapies. There were six neurological complications, four post-operative transient neurological deficits and two permanent deficits.ConclusionDorsal root entry zone surgery is effective and safe for treating patients with deafferentation pain, especially after brachial plexus injury. It can be considered an alternative treatment after failed neurostimulation techniques for pain control. However, its indication should be considered as the first therapeutic option after medical therapy failure due to its good long-term results. 相似文献
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