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We report the case of a 59-year-old man with advanced renal cell carcinoma (RCC), without inferior vena cava (IVC) involvement, treated with radical nephrectomy, palliative radiotherapy for bone metastasis, and medical therapy for bone and lung metastases. The patient died of cardiac arrest after evidence of massive malignant pericardial effusion. At autopsy, massive myocardial and pericardial neoplastic invasion was found. Heart involvement via the IVC is a well-known phenomenon during RCC progression, while in the absence of IVC involvement, clinically evident cardiac involvement is exceptional, with few cases reported in the worldwide literature. Analysis of prior reports and of the present case provides evidence on how the cardiac metastasis may have two distinct origins and clinical features. The first is hematogenous, via the IVC, even in the absence of renal vein involvement; it is generally circumscribed and has a good prognosis after surgery. The second is through the intrathoracic lymphatic system, in the presence of disseminated disease, especially pulmonary metastasis, and this type has a very poor prognosis.

Background When endometriosis infiltrates more than 5 mm beneath the peritoneum it is called deeply infiltrating endometriosis and may involve the bladder. Only 1–2% of women with endometriosis have urinary involvement, mainly in the bladder. Resectoscopic transurethral resection alone is no longer recommended because of the surgical risks and recurrence. Usually surgeons prefer a laparotomy or laparoscopic approach depending on nodule localization and personal skill. We describe a new combined transurethral approach with Versapoint ® and laparoscopic technique in the management of bladder endometriosis and the 12-month follow-up. Methods We performed a prospective observational study of 12 women affected by symptomatic bladder endometriosis at the University Hospital of Padova. We utilized a transurethral approach using a 5.2-mm endoscope with a 0.6-mm-diameter bipolar electrode (Gynecare Versapoint ® ). We delimited just the edges of the lesion via cystoscopy, penetrating transmurally at 3 or 9 o’clock without trespassing into the bladder peritoneum. Then, starting from the lateral bladder hole, we excised the lesion by laparoscopy with Harmonic ACE ® . The bladder hole was repaired with a continuous 3–0 monofilament two-layer suture. Results Operating time ranged from 115 to 167 min and mean blood loss ranged from 10 to 200 ml. No conversion to laparotomy and no intraoperative complications occurred. No dysuria or hematuria were present at follow-up. There was one case of persistent suprapubic pelvic pain at the 12-month follow-up. Conclusions A combined transurethral approach with Versapoint ® and laparoscopic treatment is a safe and easy technique for the management of bladder endometriosis, with low risks and good resolution of symptoms.

Renal cell carcinoma (RCC) is a common malignancy worldwide with approximately 95,000 new cases per year and ranks as the sixth cause of cancer deaths. Until recently, the slightly active and very toxic cytokines were available for patients with advanced RCC. Advances have been made in understanding the molecular biology of renal cancer. The introduction of targeted agents has led to promising possibilities for treating these highly vascularized tumors. Angiogenesis inhibition is likely to represent the main potential therapeutic target. Sorafenib is an oral multikinase inhibitor with activity against tyrosine kinase receptors that are responsible for blood vessel development and has shown to be active in treating advanced RCC. In this review, we summarize the pharmacology, mode of action, pharmacokinetics, and safety of sorafenib use in therapy for advanced RCC.

When endometriosis infiltrates more than 5 mm beneath the peritoneum it is called deeply infiltrating endometriosis and may involve the bladder. Only 1-2% of women with endometriosis have urinary involvement, mainly in the bladder. Resectoscopic transurethral resection alone is no longer recommended because of the surgical risks and recurrence. Usually surgeons prefer a laparotomy or laparoscopic approach depending on nodule localization and personal skill. We describe a new combined transurethral approach with Versapoint^sup ^ and laparoscopic technique in the management of bladder endometriosis and the 12-month follow-up. We performed a prospective observational study of 12 women affected by symptomatic bladder endometriosis at the University Hospital of Padova. We utilized a transurethral approach using a 5.2-mm endoscope with a 0.6-mm-diameter bipolar electrode (Gynecare Versapoint^sup ^). We delimited just the edges of the lesion via cystoscopy, penetrating transmurally at 3 or 9 o'clock without trespassing into the bladder peritoneum. Then, starting from the lateral bladder hole, we excised the lesion by laparoscopy with Harmonic ACE^sup ^. The bladder hole was repaired with a continuous 3-0 monofilament two-layer suture. Operating time ranged from 115 to 167 min and mean blood loss ranged from 10 to 200 ml. No conversion to laparotomy and no intraoperative complications occurred. No dysuria or hematuria were present at follow-up. There was one case of persistent suprapubic pelvic pain at the 12-month follow-up. A combined transurethral approach with Versapoint^sup ^ and laparoscopic treatment is a safe and easy technique for the management of bladder endometriosis, with low risks and good resolution of symptoms.[PUBLICATION ABSTRACT]

Purpose To investigate the allelic status of the thymidylate synthetase (TYMS) gene, located at chromosome band 18p11.32, in renal cell carcinoma (RCC). TYMS is a key target of the 5-fluorouracil (5-FU)-based class of drugs, frequently considered in combination therapies in advanced RCC. TYMS variants, such as the TYMS polymorphic 5'-untranslated region variable number tandem repeat sequence (VNTR), are under investigation to guide 5-FU treatment. Yet, no information is available with regard to changes in TYMS allele frequencies in RCC malignances. Methods Blood and matched tumor samples were collected from 41 histological proven clear cell RCC affected patients (30 males, 11 females.). TYMS VNTR genotype was first determined in blood to identify heterozygotes employing PCR techniques. To evaluate for allelic imbalance, fragment analysis was performed both in blood and matched tumor DNA of the heterozygote patients. Microsatellite analysis, employing the markers D18S59 and D18S476 mapping, respectively, at the TYMS locus (18p11.32) and 1.5 Mb downstream of the TYMS gene sequence (18p11.31), was performed to confirm TYMS allelic imbalance in tumors. Results Germ-line TYMS VNTR distribution was: 2R/2R (19.5%), TYMS 2R/3R (36.6%) and TYMS 3R/3R (43.9%). Allelic imbalance for the TYMS tandem repeat region was detected in 26.6% of the heterozygote patients. Microsatellite analysis confirmed the allelic imbalance detected by TYMS VNTR analysis and revealed that the overall frequence of allelic imbalance of chromosome band 18p11.32 was 35%, while the overall allelic imbalance of chromosome band 18p11.31 was 28%. Conclusions By focusing on the TYMS polymorphic variants in renal cancer, we here provide evidence, to our knowledge, for the first time showing loss of 18p11.32 and 18p11.31 in renal cell carcinomas. As allelic imbalances involving TYMS locus may be an important variable affecting 5-FU responsiveness, this study may contribute to explain different responses of advanced RCC in combined chemotherapeutic regimens incorporating fluoropyridines.

Congenital heart disease is one of the most important chapters in medicine because its incidence is increasing and nowadays it is close to 1.2%. Most congenital heart disorders are the result of defects during embryogenesis, which implies that they are due to alterations in genes involved in cardiac development. This review summarizes current knowledge regarding the molecular mechanisms involved in cardiac development in order to clarify the genetic basis of congenital heart disease.

Rispetto al 2003 sono state introdotte sia nuove raccomandazioni che modifiche su quelle già esistenti, con differenze legate soprattutto alle novità nel trattamento non farmacologico e ad una rimodulazione del trattamento medico. Le linee guida 2019 definiscono “tachicardie sopraventricolari” le tachiaritmie con frequenza >100/min (ad eccezione della fibrillazione atriale) nelle quali sia coinvolto il tessuto di conduzione prossimale al fascio di His. L’algoritmo per la diagnosi delle tachicardie a QRS stretto (<120 ms) è leggermente più articolato di quello del 2003: per esempio, viene modificato uno dei criteri diagnostici per distinguere le tachicardie da rientro nel nodo atrioventricolare (AVNRT) da quelle ortodromiche associate a via anomala, incrementando l’intervallo RP minimo (da 70 a 90 ms, sulla base di dati più recenti). Tale terapia è consigliata nelle linee guida americane 2015 e nel documento di consenso della European Heart Rhythm Association (EHRA) ma non in quelle 2019, essendo stata dimostrata l’efficacia solo dell’associazione betabloccanti + diltiazem, pur gravata da un rischio non trascurabile di complicanze (blocco atrioventricolare ed ipotensione).

Nel 2021, un paziente di 64 anni con fibrillazione atriale parossistica è stato sottoposto ad ablazione transcatetere con radiofrequenza presso il nostro centro. Dopo alcuni giorni, ha sviluppato inizialmente una pericardite, seguita da uno stato settico rivelatosi epifenomeno di una fistola atrio-esofagea. Il paziente è stato sottoposto a riparazione combinata chirurgica ed endoscopica e, nonostante un complicato decorso postoperatorio, è tornato a condurre una vita normale.La fistola atrio-esofagea rappresenta una delle complicanze più temibili dell’ablazione di fibrillazione atriale, gravata da un’elevata mortalità e morbilità. La sua gravità è amplificata sia dalle difficoltà diagnostiche, che possono ritardare l’intervento, sia dall’elevato rischio chirurgico associato alle tecniche di riparazione, nonché dalle limitate evidenze in tema di prevenzione nel corso della procedura ablativa.

La malattia renale cronica, il diabete mellito e lo scompenso cardiaco rappresentano tre condizioni croniche strettamente legate le une alle altre da un punto di vista fisiopatologico e prognostico. Tale legame ha portato ad enfatizzare sempre di più negli ultimi anni la necessità di un approccio olistico ai pazienti che ne sono affetti ottimizzando la gestione terapeutica di quella che è stata definita recentemente sindrome cardio-renale-metabolica. Un approccio che ha acquisito rilevanza grazie agli studi condotti negli ultimi anni che, inizialmente condotti nei pazienti diabetici ed in seguito in quelli affetti da scompenso cardiaco e malattia renale cronica, hanno dimostrato l’efficacia di nuove classi farmacologiche nel ridurre il rischio cardiovascolare, la progressione dello scompenso cardiaco e della malattia renale cronica. Scopo di questa rassegna è quello di rivedere i principali aspetti farmacologici di due di queste nuove classi farmacologiche, quella degli inibitori del co-trasportatore sodio-glucosio di tipo 2 e quella, più recente, degli antagonisti non steroidei dei recettori dei mineralcorticoidi.