Congenital native interruption of aortic arch in an adult: Extra-anatomic approach by right-side thoracotomy

We outline the case of an 18-year-old male patient with a congenital nonoperated interruption of the aortic arch. A right thoracotomy without cardiopulmonary bypass facilitated repair through an extra-anatomic bypass between the ascending and the supradiaphragmatic descending aorta. Results for the immediate and 2-year radiologic and clinical check-up were satisfactory. The most common complications in anatomic correction are stroke under selective cerebral perfusion, risk of paraplegia, and hemorrhage. We present a new technique for repair of interruption of the aortic arch in adults that avoids the need for extended dissection of the aorta and a partial occlusion clamp during anastomosis and allows for cerebral and medullar perfusion

Is there an optimal minimally invasive technique for left anterior descending coronary artery bypass?

<p>Abstract</p> <p>Background</p> <p>The aim of this retrospective study was to evaluate the clinical outcome of three different minimally invasive surgical techniques for left anterior descending (LAD) coronary artery bypass grafting (CABG): Port-Access surgery (PA-CABG), minimally invasive direct CABG (MIDCAB) and off-pump totally endoscopic CABG (TECAB).</p> <p>Methods</p> <p>Over a decade, 160 eligible patients for elective LAD bypass were referred to one of the three techniques: 48 PA-CABG, 53 MIDCAB and 59 TECAB. In MIDCAB group, Euroscore was higher and target vessel quality was worse. In TECAB group, early patency was systematically evaluated using coronary CT scan. During follow-up (mean 2.7 ± 0.1 years, cumulated 438 years) symptom-based angiography was performed.</p> <p>Results</p> <p>There was no conversion from off-pump to on-pump procedure or to sternotomy approach. In TECAB group, there was one hospital cardiac death (1.7%), reoperation for bleeding was higher (8.5% vs 3.7% in MIDCAB and 2% in PA-CABG) and 3-month LAD reintervention was significantly higher (10% vs 1.8% in MIDCAB and 0% in PA-CABG). There was no difference between MIDCAB and PA-CABG groups. During follow-up, symptom-based angiography (n = 12) demonstrated a good patency of LAD bypass in all groups and 4 patients underwent a no LAD reintervention. At 3 years, there was no difference in survival; 3-year angina-free survival and reintervention-free survival were significantly lower in TECAB group (TECAB, 85 ± 12%, 88 ± 8%; MIDCAB, 100%, 98 ± 5%; PA-CABG, 94 ± 8%, 100%; respectively).</p> <p>Conclusions</p> <p>Our study confirmed that minimally invasive LAD grafting was safe and effective. TECAB is associated with a higher rate of early bypass failure and reintervention. MIDCAB is still the most reliable surgical technique for isolated LAD grafting and the least cost effective.</p

Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. MEN1 is characterized by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid glands, and pancreatic islet cells. In addition, MEN1 carriers can have adrenal or thyroid tumors and non-endocrine tumors, such as lipomas, angiofibromas, and leiomyomas. Although leiomyoma is not a major component of MEN1, it is thought to occur more frequently than expected. However, there has been no report of a case of MEN1 with leiomyoma in Korea so far. This report describes a patient with multiple leiomyomas in MEN1. A 50-year-old woman was referred for further evaluation of elevated calcium levels and osteoporosis. Biochemical abnormalities included hypercalcemia with elevated parathyroid hormone. There was hyperprolactinemia with pituitary microadenoma in sella MRI. An abdominal MRI demonstrated adrenal nodules and leiomyomas in the bladder and uterus. Endoscopic ultrasonography demonstrated esophageal leiomyoma and pancreatic islet cell tumor. A subtotal parathyroidectomy with thymectomy was performed. Sequencing of the MEN1 gene in this patient revealed a novel missense mutation (D350V, exon 7). This is the first case of MEN1 accompanied with multiple leiomyomas, parathyroid adenoma, pituitary adenoma, pancreatic tumor, and adrenal tumor

The Menin Tumor Suppressor Protein Is Phosphorylated in Response to DNA Damage

Multiple endocrine neoplasia type 1 (MEN1) is a heritable cancer syndrome characterized by tumors of the pituitary, pancreas and parathyroid. Menin, the product of the MEN1 gene, is a tumor suppressor protein that functions in part through the regulation of transcription mediated by interactions with chromatin modifying enzymes.Here we show menin association with the 5' regions of DNA damage response genes increases after DNA damage and is correlated with RNA polymerase II association but not with changes in histone methylation. Furthermore, we were able to detect significant levels of menin at the 3' regions of CDKN1A and GADD45A under conditions of enhanced transcription following DNA damage. We also demonstrate that menin is specifically phosphorylated at Ser394 in response to several forms of DNA damage, Ser487 is dynamically phosphorylated and Ser543 is constitutively phosphorylated. Phosphorylation at these sites however does not influence the ability to interact with histone methyltransferase activity. In contrast, the interaction between menin and RNA polymerase II is influenced by phosphorylation, whereby a phospho-deficient mutant had a higher affinity for the elongating form of RNA polymerase compared to wild type. Additionally, a subset of MEN1-associated missense point mutants, fail to undergo DNA damage dependent phosphorylation.Together, our findings suggest that the menin tumor suppressor protein undergoes DNA damage induced phosphorylation and participates in the DNA damage transcriptional response

Technique d'inclusion de Tirone David (résultats à moyen terme à propos de 104 cas)

LILLE2-BU Santé-Recherche (593502101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Prevalence, characteristics and prognosis of MEN 1-associated glucagonomas, VIPomas, and somatostatinomas: study from the GTE (Groupe des Tumeurs Endocrines) registry.

UNLABELLED: Few studies have concerned the rare functioning endocrine pancreatic tumors associated with multiple endocrine neoplasia type 1 (MEN 1). When sporadic, these tumors have a poor prognosis. AIM: To analyze the frequency, characteristics and prognosis of MEN 1-associated glucagonomas, VIPomas and somatostatinomas recorded in the GTE (Groupe des Tumeurs Endocrines) registry. METHODS: Records of the patients whose GTE registry codes included glucagonoma, VIPoma or somatostatinoma were reviewed. The diagnosis was confirmed when there were clinical signs of a functioning tumor and/or when blood levels of the peptide were higher than twice the upper limit of normal. RESULTS: Among 580 patients with MEN 1, duodeno-pancreatic involvement was present in 307 (52.9%). Five (1.6%) had a glucagonoma, 3 (0.98%) a VIPoma and 2 (0.65%) a somatostatinoma. A clinical syndrome was present in 1 patient with glucagonoma, in the 3 with VIPomas and in 1 with somatostatinoma. Tumor size was greater than 3 cm more often for these rare tumours (67%) than in patients with other type of duodeno-pancreatic involvement (28%) (P=0.02) and visceral metastases were more frequent (40% vs 15%; P=0.056). Ten-year survival of patients with glucagonomas, VIPomas or somatostatinomas (53.8%; CI95%: 15.5-92.1) was poorer than that of patients with insulinomas (91.4%; CI95%: 83.399.5; P=0.01) or gastrinomas (81.7%; CI95%: 74.9-88.5; P=0.20) and close to that of patients with non-functioning tumors (62.2%, CI95%: 41.0-83.9; NS). CONCLUSION: Glucagonomas, VIPomas and somatostatinomas, especially the functioning type, are very rare in patients with MEN 1. Prognosis is poor, probably because of large tumor size and high rate of metastasis. Survival is similar to that in patients with non-functioning tumors

LE GENE DE PREDISPOSITION AUX NEOPLASIES ENDOCRINIENNES MULTIPLES DE TYPE 1 (ANALYSE DES MUTATIONS CHEZ LES PATIENTS ET ETUDE DE L'EXPRESSION ET DE L'INACTIVATION DU GENE NEM1 DANS DES MODELES CELLULAIRES ET ANIMAUX)

LYON1-BU Santé (693882101) / SudocPARIS-BIUM (751062103) / SudocPARIS-BIUP (751062107) / SudocSudocFranceF

Les complications thrombotiques symptomatiques des malformations veineuses (étude prospective à propos de 49 cas)

MONTPELLIER-BU Médecine UPM (341722108) / SudocMONTPELLIER-BU Médecine (341722104) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF