SDH-deficient renal cell carcinoma – clinical,pathologic and genetic correlates: a case report

Background

Succinate dehydrogenase (SDH)- deficient renal cell carcinoma (RCC) is a newly identified rare subtype of RCC, having only gained acceptance from the World Health Organization in 2016. To the best of our knowledge, there are only 55 reported cases worldwide. Here, we report a new case of SDH-deficient RCC.

Case presentation

A 49-year-old male patient was incidentally found to have a large right renal mass. He had no personal or family history of paragangliomas (PGL), pheochromocytomas (PC), or gastrointestinal stromal tumors (GIST). The neoplasm was unilateral and unifocal. He underwent an open partial nephrectomy. Detailed pathological analysis was conducted to confirm the diagnosis. Genetic testing revealed a pathogenic mutation in the SDHB gene. He has been followed for 24?months now and has remained well without any evidence of local or distant recurrence. In this report we describe our experience with this diagnosis and review the relevant clinical, pathological, and genetic features.

Conclusions

Without the identification of SDHB deficiency, this patient’s personal and familial predisposition to PC, PGL, GIST and metachronous RCCs may have gone undetected despite his RCC diagnosis. When faced with an eosinophilic RCC, pathologists should routinely search for vacuoles or flocculent cytoplasmic inclusions. When these are present, or in cases of difficult eosinophilic renal tumors, staining for SDHB is recommended. For tumours without adverse pathologic features (i.e. high nuclear grade, coagulative necrosis, or sarcomatoid differentiation) excision alone may be a reasonable option, with the addition of regular surveillance for PC and PGLs in those found to harbor germline SDH mutations.

     

Patient and clinician factors associated with prehospital pain treatment and outcomes: cross sectional study

Objective

We aimed to identify how patient (age, sex, condition) and paramedic factors (sex, role) affected prehospital analgesic administration and pain alleviation.

Predator and restraint stress during gestation facilitates pilocarpine-induced seizures in prepubertal rats

Stress during gestation can result in early and long-term developmental aberrations. This study aimed to assess the impact of prenatal restraint or predator stress on pilocarpine-induced epileptic behavior. Pregnant rats were exposed to stressors on gestational days 15, 16, and 17. Restraint stress consisted of daily restraint of the dam. During predator stress, caged rats were exposed to a cat in a cage. On postnatal day 25, male pups were injected with pilocarpine and the behavior of each rat was observed. Prenatal stress led to low birth weight and increased blood corticosterone levels. Both stressors significantly potentiated pilocarpine-induced seizures. Predator-stressed pups exhibited significantly severe tonic-clonic seizures compared with restraint-stressed animals. These data emphasize the impact of prenatal stress on fetal growth, and neural and endocrine function. The results also suggest that psychosocial stressors have a greater impact on neural and endocrine function than physical stressors do.     

Dosimetric properties of a flattening filter-free 6-MV photon beam: a Monte Carlo study

Purpose The dosimetric features of an unflattened 6-MV photon beam of an Elekta SL-25 linac was calculated by the Monte Carlo (MC) method. Material and methods The head of the Elekta SL-25 linac was simulated using the MCNP4C MC code. The accuracy of the model was evaluated using measured dosimetric features, including depth dose values and dose profiles in a water phantom. The flattening filter was then removed, and beam dosimetric properties were calculated by the MC method and compared with those of the flattened photon beam. Results Our results showed a significant (twofold) increase in the dose rate for all field sizes. Also, the photon beam spectra for an unflattened beam were softer, which led to a steeper reduction in depth doses. The decrease in the out-of-field dose and increase in the contamination electrons and a buildup region dose were the other consequences of removing the flattening filter. Conclusion Our study revealed that, for recent radiotherapy techniques, the use of multileaf collimators for beam shaping removing the flattening filter could offer some advantages, including an increased dose rate and decreased out-of-field dose.     

Bridge to transplantation with a left ventricular assist device for systemic ventricular failure after Mustard procedure

In recent years the conservative techniques to treat degenerative mitral valve insufficiency have developed to such an extent mainly due to a better understanding of the physiology and pathology of the mitral valve and to the possibility to get predictable and satisfactory results. Still a challenge persists for the cardiac surgeon when he has to deal with complex reconstructions. The technique described seems to offer an even better surgical option for patients with complex lesions involving the posterior mitral leaflet, especially as far as the hemodynamic performance is concerned.     

Serum nitric oxide metabolites in subjects with metabolic syndrome

ObjectivesEvidence are available showing that higher nitric oxide production is associated with metabolic disorders. The aim of this study was to determine serum nitric oxide metabolites (NO_x) concentration in subjects with metabolic syndrome (MetS).Design and methodsIn a cross-sectional study, NO_x was measured in 3505 subjects, aged 20–94 years, using the Griess reaction. After excluding subjects taking medications for hypertension and dyslipidemia, data for 3148 subjects were analyzed.ResultsThere was a direct association between the numbers of metabolic risk factors and serum NO_x values in both genders (p for trend < 0.05). After multivariable adjustment, serum NO_x concentration was significantly higher in subjects with MetS [(31.9 (29.4–34.6) vs. 29.8 (27.6–32.1), p < 0.01) or type 2 diabetes (34.6 (31.3–38.2) vs. 30.2 (27.9–32.6), p < 0.001) as compared to their corresponding controls.ConclusionsHigher NO_x concentrations in subjects with MetS and type 2 diabetes support the existing hypothesis that NO overproduction affects insulin's metabolic actions.